Peds Chapters 24, 25, 26, 27 - Final

Neoplastic

(referring to cells that abnormally proliferate) disorders are also alterations in cellular regulation. Cancer results from an alteration in cellular regulation resulting in out-of-control cell growth. Cancer accounts for the most deaths from disease in children older than 1 year of age.

Aplastic Anemia

- Failure of bone marrow to produce cells. Most cases are acquired - immune-mediated response; idiopathic - Inherited cases include Fanconi anemia - Other causes: toxins, viruses, myelosupproessive drugs (chemotherapy), radiation exposure

Leukemia

ALL (most common) and AML; primary disorder of the bone marrow in which the normal elements are replaced with abnormal WBCs. Normally, lymphoid cells grow and develop into lymphocytes, and myeloid cells grow and develop into RBCs, granulocytes, monocytes, and platelets. Leukemia may develop at any time during the usual stages of normal lymphoid or myeloid development. Most cases of childhood leukemia are curable

Preventing hemmorgage

Acetaminophen for pain, avoid salicylate and NSAIDs; avoid rectal temps and exams; avoid IM injections and lumbar punctures if possible. Pressure dressing if bone marrow aspiration - give platelets as ordered for active or uncontrolled bleeding

Preventing infection with SCA

Administer penicillin by 2 months until age 5 as prophylaxis against pneumococcal infection, erythromycin if allergic. Yearly flu vaccines after 6 months of age, and 23 valent pneumococcal conjugate vaccine in addition to 7 valent series, also meningococcal vaccine

Deferoxamine

Administered with blood transfusion; binds to the iron and allows it to be removed through the stool or urine. Oral deferasirox may also be prescribed and is generally well tolerated, with minimal GI side effects. - chelation therapy

Brain stem glioma

Aggressive, difficult to resect, resistant to chemotherapy. Spreads widely within the brain stem but rarely extends outside of brain stem area. Affects cranial nerve function.

GH diagnosis

Bone age 2 or more deviations below normal; CT or MRI show tumor; GH stimulation test (provide glucagon, clonidine, insulin, arginine, or L-dopa to stimulate pituitary to release a burst of GH) - peak GH levels below 7-10 in two tests confirm dx

DI diagnosis

CT, MRI, or ultrasound of the skull and kidneys (tumor presence); Urinalysis: urine dilute, osmolarity < 3,000 mOsm/L, specific gravity < 1.005, and sodium decreased; Serum osmolarity > 300 mOsm/L, serum sodium elevated; Fluid deprivation test (measures ADH release from pituitary in response to water deprivation - normal results will show dec. urine output, inc. specific gravity, and no change in serum Na)

Astrocytoma

Cerebellum, cerebral hemispheres, thalamus, hypothalamus Slow course with insidious onset. Responsive to chemotherapy, often resectable. Causes slowly increasing intracranial pressure. Low-grade tumor may be removed completely. High-grade tumors have poor prognosis

Medulloblastoma (most common brain tumor)

Cerebellum; Invasive, highly malignant, grows rapidly. Less favorable outcome with disseminated disease. Progresses quickly to increased intracranial pressure, seeds on CNS pathways. Peak incidence: 5-10 years old.

Common Food Allergens to Avoid in Children Younger Than 1 Year

Cow's milk Eggs Peanuts Tree nuts Fish and shellfish Wheat Soy

Iron deficiency lab results

Decreased Hgb and Hct, decreased reticulocyte count, microcytosis, hypochromia, decreased serum iron and ferritin levels, and increased free erythrocyte protoporphyrin (FEP) level

X-linked hyper-IgM syndrome

Defect in protein found on T-cell surface, resulting in decreased IgG and IgA levels with significant increase in IgM levels; Males only Recurrent respiratory infections, diarrhea, malabsorption, Neutropenia, autoimmune disorders; Routine administration of IVIG, Subcutaneous granulocyte colony-stimulating factor (G-CSF) when neutropenic, Bone marrow transplantation Treatment of autoimmune disorders

Neurofibromatosis dx

Diagnosis is made if two or more of the following are present: Six or more café-au-lait macules (light-brown spots) >5 mm in diameter in children and >15 mm in diameter in adolescents and adults Two or more neurofibromas (benign tumors) or one plexiform neurofibroma (tumor that involves many nerves) Freckling in the armpit or groin Presence of an optic glioma (a tumor on the optic nerve) Two or more growths on the iris of the eye (Lisch nodules or iris hamartomas) Abnormal development of the spine (scoliosis), the temple bone of the skull, or the tibia A first-degree relative (parent, sibling, or child) with neurofibromatosis

Genetic impriniting

Disorders that result from a disruption of imprinting usually involve a growth phenotype and include varying degrees of developmental problems. Common examples include Prader-Willi syndrome (a condition resulting in severe hypotonia and hyperphagia, leading to obesity and intellectual disability), Angelman syndrome (a neurodevelopmental disorder associated with intellectual disability, jerky movements, and seizures), and Beckwith-Wiedemann syndrome (characterized by somatic overgrowth, congenital malformations, and a predisposition to embryonic neoplasia)

Meperidine

Don't use for pain management during sickle cell crisis - shown to cause seizures

Diagnosing HIV

ELISA test - less accurate than PCR, tests for antibodies to HIV. PCR test tests for HIV genetic material, and positive in infected infants older than 1 month. CD4 and ANC are low with HIV infection

Acute Lymphoblastic Leukemia

Eighty-five percent of cases of ALL occur in children between 2 and 10 years of age - more common in white children; male gender; cure rate is 70%; T cell, B cell, early pre-B cell, or pre-B cell; Generally, the higher the WBC count at diagnosis, the worse the prognosis. Children between 1 and 9 years of age and with a WBC count less than 50,000 at diagnosis have the best prognosis.

Risk for ineffective tissue perfusion related to the effects of sickling and infarction of tissues in SCA

Encourage incentive spirometry, administer O2 if below 92%, O2 supplementation in the absence of hypoxia is unnecessary and may inhibit erythropoiesis

Signs of HIV

Failure to thrive, Recurrent bacterial infections, Opportunistic infections, Chronic or recurrent diarrhea, Recurrent or persistent fever, Developmental delay, Prolonged candidiasis

Iron

Fetus receives through placenta; premies at risk for iron deficiency. Physiologic anemia occurs between 2-6mo in term infant. Maternal derived iron stores depleted by 4-6mo. and rapid growth and increased blood volume over first few months. Adolescents at risk due to rapid growth and menstruation.

Ependymoma

Frequently arises from floor of fourth ventricle Varying speed of growth. Often causes hydrocephalus. Usually diagnosed before it spreads to other parts of the brain or spinal cord.

Causes of GH deficiency

Genetic: Prader-Willi or Turner; Primary is injury or destruction of pituitary or hypothalamus; secondary is from tumor, infection, infarction, CNS irradiation, abnormal formation in utero

HIV infection

HIV affects immune function via alterations mainly in T-cell function, but it also affects B cells, natural killer cells, and monocyte/macrophage function. HIV infects the CD4 (T-helper) cells. The virus replicates itself via the CD4 cell and renders the cell dysfunctional. Immune deficiency results as the number of normal, functioning CD4 cells drops. Initially, as CD4 counts decrease, the T-suppressor (CD8) counts increase, but as the disease progresses, CD8 counts also fall. The helper T-cell function declines even in asymptomatic infants and children who have not experienced significant decreases in the CD4 cell count. The T cells lose response to recall antigens, and this loss is associated with an increased risk of serious bacterial infection

HIV encephalopathy

HIV rapidly invades the central nervous system in infants and children and is responsible for progressive HIV encephalopathy. As a result, acquired microcephaly, motor deficits, or loss of previously achieved developmental milestones may occur. In children with progressive HIV encephalopathy, neurologic symptoms may present before immune suppression

Hemoglobin

Hgb A is the predominant type after 6 months, Hgb F is before that. Hgb F has a much shorter cell life. Production of the cells transfers from the liver to the marrow of the long ad flat bones, can effect oxygenation and production

AML risk factors

Hispanic race, previous chemotherapy, and genetic abnormalities such as Down syndrome, Fanconi anemia, neurofibromatosis, Wiskott-Aldrich syndrome, and Diamond-Blackfan anemia.

Growth hormone deficiency

Hypopituitarism or Dwarfism •Poor growth •Short stature •Occurs 1 in 4,000children •Growth pattern discrepancy - infants may start with normal birth hgt/wgt but later drop to < 3rd percentile as they grow - Released throughout the day, with most secreted during sleep. GH stimulates linear growth, bone mineral density, and growth in all body tissues. GH deficiency = generally a result of the failure of the anterior pituitary or hypothalamic stimulation on the pituitary to produce sufficient GH

Immunoglobulins that don't cross placenta

IgA, IgD, IgE, and IgM - they require antigenic challenge for production. IgM close to adult level by 1 yr, IgA adult level by 13 years

Systemic JIA

In addition to joint involvement, fever and rash may be present at diagnosis. Enlarged spleen, liver, and lymph nodes; myalgia; severe anemia Pericarditis, pericardial effusion, pleuritis, pulmonary fibrosis

Delayed Puberty

In girls, it exists if the breasts have not developed by age 12 and in boys, it exists when no testicular enlargement or scrotal changes have occurred by age 14. The most common cause for delayed puberty is a hereditary pattern of growth and development known as constitutional delay (late bloomer/familial pattern). Turner or Klinefelter syndrome, CF, anorexia, hypothalamus or pituitary tumors

CAH sx

In males, the enzyme deficiency of 21-OH with excessive androgen secretion leads to a slightly enlarged penis, which may become adult sized by school age, and a hyperpigmented scrotum. Males do not have obvious signs at birth but may enter puberty by 2 to 3 years of age. The female fetus develops male secondary sexual characteristics; thus, CAH causes ambiguous genitalia in girls. The clitoris is enlarged and may resemble the penis, the labia have a rugated appearance, and the labial folds are fused, but the internal reproductive organs, including the ovaries, fallopian tubes, and uterus, are normal

Polyarticular JIA

Involvement of five or more joints; frequently involves small joints and often affects the body symmetrically Malaise, lymphadenopathy, organomegaly, poor growth Often a severe form of arthritis; rapidly progressing joint damage, rheumatoid nodules

Pauciarticular JIA (oligoarticular)

Involvement of four or fewer joints; quite often the knee is involved. Most common type. Eye inflammation, malaise, poor appetite, poor weight gain, Iritis, uveitis, uneven leg bone growth

JIA management

Maintain joint range of motion and muscle strength via exercise (physical or occupational therapy). Swimming is a particularly useful exercise to maintain joint mobility without placing pressure on the joints. Teach families appropriate use of splints prescribed to prevent joint contractures. Monitor for pressure areas or skin breakdown with splint or orthotic use. inflammation control, pain relief, promotion of remission, and maintenance of mobility. NSAIDs, corticosteroids, and antirheumatic drugs such as methotrexate and etanercept are prescribed, depending on the type and severity of the disease.

Decreasing cerebral edema post op brain surgery

Mannitol or hypertonic dextrose

X-linked agammaglobulinemia

Markedly reduced or absent IgG, IgM, and IgA. Absence of B cells; Males only Recurrent respiratory and gastrointestinal infections; Routine IVIG infusions, Treat infections

Trisomy 13 - Patau syndrome

Microcephalic head, wide sagittal suture and fontanels, malformed ears, small eyes, extra digits, severe hypotonia, severe intellectual disability, congenital heart defects, cleft lip, cleft palate - 1 in 10,000 births, usually don't survive past 1 year

GVHD post bone marrow transplant

Monitor the child who had a bone marrow or stem cell transplant closely for a maculopapular rash that usually starts on the palms and soles; this is an indication that graft-versus-host disease (GVHD) is developing. GVHD is a life-threatening condition in which donor cells attack host cells

Klinefelter syndrome

Most common sex chromosomal abnormality. The karyotype and phenotype are male, but one or more extra X chromosomes is present. The abnormality is usually caused by nondisjunction during meiosis, but mosaic forms do present. Males present with some female-like physical features that are caused by testosterone deficiency.

Hemophilia A, factor VIII deficiency

Most common; Factor VIII is essential in the activation of factor X, which is required for the conversion of prothrombin into thrombin, resulting in an inability of the platelets to be used in clot formation.

Inborn Errors of Metabolism

Most follow an autosomal recessive inheritance pattern. They are caused by gene mutations that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats. The body cannot convert food into energy as it normally would. Most inborn errors are due to a defect in an enzyme or transport protein that results in a block in the metabolic pathway. The blocked metabolic pathway allows for accumulation of the damaging by-product of the impaired metabolic process or may be responsible for a deficiency or absence of a necessary product.

SIADH treatment

Nursing goals aimed at restoring fluid balance and preventing injury. -Strict I/O and daily wgts, fluid restriction. An indwelling urinary catheter may be needed (allow for hourly monitoring of urine volume and specific gravity). in addition to fluid restriction may need to administer IV NaCl to correct hyponatremia and increase serum osmolality

Signs of brain stem herniation

Opisthotonos, nuchal rigidity, head tilt, sluggish pupils, increased blood pressure with widening pulse pressure, change in respirations, bradycardia, irregular pulse, and changes in body temperature.

Retinoblastoma assessment

Parents are often the first to notice the "cat's eye reflex" or "whitewash glow" to the child's affected pupil.determining when other associated symptoms such as strabismus, orbital inflammation, vomiting, or headache began. Inquire about risk factors such as a family history of retinoblastoma or other cancer, or the presence of chromosomal anomalies. Assess pupils for size and reactivity to light. Note presence of leukocoria ("cat's eye reflex," a whitish appearance of the pupil) in the affected eye. Assess the eyes for associated signs, which may include erythema, orbital inflammation, or hyphema.

Most children are colonized with what fungus?

Pneumocystis jirovecii; children having treatment for ALL are at risk for opportunistic infection

Positioning post-op brain tumor

Position the child on the unaffected side with the head of the bed flat or at the level prescribed by the neurosurgeon. Side positioning is usually preferred, as the child may have difficulty handling oral secretions if the level of consciousness is decreased. Do not elevate the foot of the bed, as this may increase intracranial pressure and contribute to bleeding. When changing the child's position, maintain the head in alignment with the remainder of the body.

vWD management

Prevent injury; When bleeding or injury does occur, vWF is administered. Desmopressin may also be used to release the factors necessary for clotting. Desmopressin raises the plasma level from stores in the endothelium of blood vessels; this releases factor VIII and vWF from these stores into the bloodstream. These may also be administered before dental work or surgery

Hyperthyroidism

Rare in children; Graves = autoimmune condition; excessive amounts of thyroid hormone released in response to antibody called human thyroid stimulator immunoglobulin (TSI) -Occurs 5 x's more in girls than boys; usually have a goiter present. -peak incidence in children around adolescence -will have positive thyroid stimulator immunoglobulin (TSI)

Selective IgA deficiency

Serum IgA <7 mg/dL, normal IgG and IgM; May be asymptomatic Child is more prone to allergies due to lack of the mucosal protection that IgA offers. Recurrent infections of respiratory, gastrointestinal, and genitourinary tracts, development of autoimmune disorders;No specific gammaglobulin treatment available Treat infections or autoimmune disorders. Severe anaphylactic reaction can occur if child receives transfusion of blood containing IgA and IgA antibodies

SCA lab values

Sickle shaped cells on peripheral blood smear, increased platelet count, ESR elevated, elevated reticulocyte count, abnormal liver fxn tests and elevated bilirubin

GH deficiency treatment

Supplemental GH; removal of any tumors followed by GH therapy - SubQ injection, 0.16-0.24 mg/kg/week divided into daily doses, treatment continued until near final height is achieved - goal to achieve 3-5inches in 1st year

autoantibodies

The body manufactures T cells and antibodies against its own cells and organs

Autosomal recessive

The children of two carriers therefore have a 25% chance of inheriting two normal genes; a 50% chance of inheriting one normal gene and one abnormal gene (=carrier); and a 25% chance of inheriting two abnormal genes (and, thus, the disorder). •Cystic fibrosis •Phenylketonuria •Tay-Sachs Sickle cell disease

Parathyroid hormone

This hormone, along with vitamin D and calcitonin, regulates calcium/phosphate homeostasis by increasing osteoclastic activity, absorption of calcium and excretion of phosphate by the kidneys, and absorption of calcium in the GI tract. The two disorders associated with parathyroid gland dysfunction are hypoparathyroidism and hyperparathyroidism.

Nadir

Time after administration of the Chemo drug when bone marrow suppression is expected to be at it's greatest and the neutrophil count is expected to be at it's lowest.

Hypothyroidism treatment

To prevent intellectual disability and restore normal growth and motor development, thyroid hormone replacement with sodium L-thyroxine (Synthroid, synthetic thyroxine, or Levothroid) is given. The recommended starting dosage is 10 to 15 μg/kg/day. There are no adverse effects with physiologic doses, but thyroid function tests are performed initially every 2 weeks to closely monitor for effects and to ensure proper dosing.

DIC treatment

Treat underlying cause; Heparin at lower doses to counteract deficiency in coagulation/anticoagulation pathway - reduces consumption of platelets

DI treatment

Tumor resection if necessary; low sodium/protein diet; daily replacement of ADH; use of thiazide diuretic; Desmopressin (DDAVP) is most common and given intranasally, or subQ, orally, or bucally, q8-12h - goal to maintain hourly urine output of 1-2 mL/kg and spec. gravity of at least 1.010

B thalassemia dx

Usually by 1 year; hx of pallor, jaundice, failure to thrive, and hepatosplenomegaly. Lab tests may reveal low Hgb and Hct, elevated bili, elevated iron, Hgb electrophorsis shows Hgb F and Hgb A2 only, and Peripheral blood smear shows prominence of target cells, hypochromia, microcytosis, and extensive anisocytosis and poikilocytosis (variation in the size and shape of the RBCs, respectively).

Wiskott-Aldrich Syndrome

X-linked genetic disorder that results in immunodeficiency, eczema, and thrombocytopenia. It affects males only. The defective gene responsible for this disorder is called the Wiskott-Aldrich syndrome protein (WASp). Complications include autoimmune hemolytic anemia, neutropenia, skin or cerebral vasculitis, arthritis, inflammatory bowel disease, and renal disease.

Hemophilia

X-linked recessive disorders that result in deficiency in one of the coagulation factors in the blood. X-linked recessive disorders are transmitted by carrier mothers to their sons, so usually only males are affected by hemophilia. The coagulation factors in the blood are essential for clot formation either spontaneously or from an injury

The newborn exhibits

a decreased inflammatory response and phagocytic response to invading organisms, and this increases his or her susceptibility to infection. While these immunity types and cells are present at birth, the healthy full-term infant's immune system is still immature.

Congenital Adrenal Hyperplasia (CAH)

a group of autosomal recessive inherited disorders in which there is an insufficient supply of the enzymes required for the synthesis of cortisol and aldosterone. More than 90% of the cases of CAH are caused by a deficiency of 21-hydroxylase (21-OH) enzyme. It is the most common type of adrenocortical insufficiency seen in children. results in blocking the production of adrenal mineralocorticoids and glucocorticoids. A reduction of cortisol occurs, which leads to increased ACTH production by the anterior pituitary to stimulate adrenal gland production. Prolonged oversecretion of ACTH causes enlargement or hyperplasia of the adrenal glands and excess production of androgens, leading to male characteristics appearing early or inappropriately.

chromosome

a long, continuous strand of DNA that carries genetic information

WBC count

actual count of the number of WBC's in a volume of blood

Severe hypoglycemic reaction

administer glucagon (a hormone produced by the pancreas and stored in the liver) either subcutaneously or intramuscularly. Children under 20 kg receive 0.5 mg; children over 20 kg receive 1 mg. Dextrose (50%) may be given intravenously if needed

Delayed puberty management

administer testosterone; or estradiol-conjugated estrogen in low doses if there is no underlying situation to address - usually only necessary for a short time to get puberty started

Hyperthyroidism treatment

aimed at reducing the extra circulating thyroid hormone through use of medications such as methimazole. In some cases, radioactive iodine or thyroidectomy may be necessary. Patients will need to have thyroid function labs checked frequently to assess response to treatment, usually ever 4-6 months

Precocious puberty treatment

aimed at suppressing the gonadotropin release, thus reducing sex hormone development. Once treatment is discontinued, puberty development will begin normally again - The treatment for central precocious puberty involves administering a synthetic GnRH (gonadotropin-releasing hormone). This is available as a subcutaneous injection given daily, an intranasal compound, a depot injection given in the MD office, or a subcutaneous implant yearly. (stimulates gonadotropin release initially but when given on a long-term basis will suppress gonadotropin release)

Glucose-6-Phosphate Dehydrogenase Deficiency

an enzyme that is responsible for maintaining the integrity of RBCs by protecting them from oxidative substances. An X-linked recessive disorder that occurs when the RBCs have insufficient G6PD, or the enzyme is abnormal and does not function properly. The RBCs are affected by oxidative stress more easily. Triggers that may result in oxidative stress and hemolysis include bacterial or viral illness or exposure to certain substances such as medications (e.g., sulfonamides, sulfones, malaria-fighting drugs [such as quinine], or methylene blue [for treating urinary tract infections]), naphthalene (an agent in mothballs), or fava beans.

Neurofibromatosis

are neurocutaneous genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissues. There are distinct types: neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

Juvenile Idiopathic Arthritis

autoimmune disorder in which the autoantibodies mainly target the joints. It is a chronic disease; the child may experience healthy periods alternating with flare-ups. There are essential 3 types with variations in involvement, all have involvement of more than 1 joint. Complications can also vary in type and severity depending on the type of arthritis. Overall: Inflammatory changes in the joints cause pain, redness, warmth, stiffness, and swelling. Stiffness usually occurs after inactivity (as in the morning, after sleep).

Mean corpuscular Volume

average size of the RBC

The nurse is caring for a child with diabetes insipidus. Which of the following clinical manifestations would be expected for this child?

b. Serum osmolality greater than 300 mOsm/kg. Serum osmolality greater than 300 mOsm/kg is a clinical manifestation of diabetes insipidus. Rationale: Other clinical manifestations of diabetes insipidus include urine specific gravity less than 1.005, decreased urine osmolality, hypernatremia, increased urination, and dehydration/thirst

Gene

basic unit of heredity of all traits

ANC (absolute neutrophil count)

blow 500 places the child at greatest risk for infection; although below 1500 usually warrants evaluation - children w/ neutropenia and fever must be started on broad spectrum IV antibiotics to avoid sepsis

Chemo doses in children are based on

body surface area - a nomogram is used with the child's height and weight

Precocious Puberty dx

bone age may reveal advanced age; labs may reveal increased levels of LH, FSH, estradiol, or testosterone. Response to GnRH stimulation test confirms the diagnosis of central precocious puberty. - This test involves administering synthetic GnRH intravenously; drawing serial blood levels, about every 2 hours including LH, FSH, and estrogen or testosterone. A positive result = pubertal or adult levels of these hormones in response to the GnRH administration

The nurse is providing education in response to questions from new parents concerned about keeping their child safe from infections. Which phrase would be most appropriate for the nurse to include in the teaching plan?

c. Breastfeeding provides passive immunity to the infant that formulas cannot provide. - Rationale: A child's immune system is not fully functional until later in childhood. The baby receives passive immunity via maternal antibodies that can help protect the baby until the baby begins to manufacture her/his own immunoglobulins; however, adequate hand washing and keeping ill contacts away from the baby will help keep her/him safe. Phagocytic cells (neutrophils and monocytes) are not fully functional reaching adult levels until age 7.

Neurofibromatosis 1 (von Recklinghausen disease)

causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, nearly half of the cases are due to a new mutation. The inheritance pattern is autosomal dominant; therefore, offspring of affected individuals have a 50% chance of inheriting the altered gene and presenting with symptoms. Neurofibromatoses are due to a mutation of the neurofibromin gene on chromosome 17.

Cellular immunity

cell-mediated immunity controlled by T cells

Thalassemia intermedia

child requires blood transfusions to maintain adequate quality of life.

Retinoblastoma

congenital, highly malignant tumor that arises from embryonic retinal cells. It accounts for 5% of cases of blindness in children. Most children are diagnosed by age 5, and the 5-year survival rate is 90% when the tumor is confined to the retina. May be hereditary or nonhereditary. Nonhereditary retinoblastoma may be associated with advanced paternal age and always presents with unilateral involvement. Hereditary retinoblastoma is inherited via the autosomal dominant mode. These cases may be unilateral or bilateral. The tumor may grow forward into the vitreous cavity of the eye or extend into the subretinal space, causing retinal detachment. The tumor may extend into the choroid, the sclera, and the optic nerve.

Galactosemia

deficiency in the liver enzyme needed to convert galactose, the breakdown product of lactose, which is commonly found in dairy products, into glucose. Galactose accumulation leads to damage to vital organs; omit dairy products for life; galactose can cause sepsis, and antibiotics may be necessary; No symptoms at birth. If undiagnosed, newborn will have jaundice, feeding intolerance, diarrhea, and vomiting and will not gain weight. Signs and symptoms of sepsis and cataracts are often seen. If untreated, can lead to liver disease, blindness, severe intellectual disability, and death

Humoral immunity

develops over time; B-cells; secrete antibodies to viruses and bacteria; recognizes antigens; antibodies mark the antigen cell for destruction, but do not destroy the cell; crosses the placenta in the form of IgG

Posterior Pituitary

disorders include diabetes insipidus (DI) and syndrome of inappropriate antidiuretic hormone (SIADH) secretion.

adrenarche

early sexual maturation

hirsutism

excessive body hair growth

Hemosiderosis

excessive supply of iron; result of rapid hemolysis of RBCs, the decrease in hemoglobin production, and the increased absorption of dietary iron in response to the severely anemic state. The excess iron is deposited in the body's tissues, causing bronze pigmentation of the skin, bony changes, and altered organ function, particularly in the cardiac system.

Hemophilia A management

factor replacement if bleeding occurs or before surgeries or dental work; no contact sports; despopressin may stop bleeding in mild cases

nondisjunction

failure of separation of the chromosome pair

DKA

fat catabolism develops (a deficiency or ineffectiveness of insulin results in the body using fat instead of glucose for energy), resulting in anorexia, nausea and vomiting, lethargy, stupor, altered level of consciousness, confusion, decreased skin turgor, abdominal pain, Kussmaul respirations and air hunger, fruity (sweet-smelling) or acetone breath odor, presence of ketones in urine and blood, tachycardia, and, if left untreated, coma and death.

Thalassemia

genetic disorder that most often affects those of African descent, but it also affects individuals of Caribbean, Middle Eastern, South Asian, and Mediterranean descent. Autosomal recessive; two types A and B; problems with the beta chain occur more often and has 3 subcategories

Primary immunodefeciency

genetic, unpreventable; Newborn screening can look for some PI conditions such as severe combined immunodeficiency (SCID).

Von Willebrand Disease

genetically transmitted bleeding disorder that may affect both genders and all races. The disorder is a deficiency in von Willebrand factor (vWF). Under ordinary circumstances vWF serves two functions: to bind with factor VIII, protecting it from breakdown, and to serve as the "glue" that attaches platelets to the site of injury. Deficiency in this factor results in a mild bleeding disorder. Children with vWD bruise easily, have frequent nosebleeds (epistaxis), and tend to bleed after oral surgery. Pubescent girls often have menorrhagia

CAH treatment

glucocorticoid (i.e. hydrocortisone or fludrocortisone (Florinef) for life

NEUROCUTANEOUS DISORDERS

hamartoses, are a group of disorders characterized by abnormalities of both the skin and the central nervous system. Many neurologic conditions are associated with cutaneous manifestations, since the skin and the nervous system share a common embryologic origin. They are complex conditions and most also affect other organ systems such as eyes, bones, heart, and kidneys. Most are hereditary and follow an autosomal dominant inheritance

Physiologic hypogammagloblinemia

happens between 2-6 mo., stops when self-production of IgG reaches higher levels; breastfed infant will acquire passive transfer of maternal immunity and be better protected; IgG is at 50% by 1 year, and adult level by 7 years; has a half life of 25 days from mother

Autologous HSCT

harvest and treatment of the child's own bone marrow, followed by infusion of the treated stem cells. Risk for relapse of the original disease is highest in autologous HSCT.

Neurofibromatosis 1 complications

headaches; hydrocephalus; scoliosis; cardiac defects; hypertension; seizures; vision and hearing loss; neurocognitive deficits, including learning disabilities, attention deficit disorder, fine and gross motor delays, ASD, and behavior and psychosocial issues; abnormalities of speech; and a higher risk for neoplasms. - no cure; just controlling sx - cafe-au-lait spots are hallmark

HSCT - Hematopoietic Stem Cell Transplantation

hematopoietic stem cells are infused intravenously into the child. This follows a period of purging of abnormal cells in the child that is accomplished through high-dose chemo or irradiation. The use of high-dose chemo and total body irradiation kills the tumor cells but also destroys the child's bone marrow. The transplanted cells migrate to the empty spaces in the child's bone marrow and reestablish normal hematopoiesis in the child. - leukemia, lymphoma, brain tumors, neuroblastoma, and other solid tumors

Ewing Sarcoma

highly malignant bone tumor. It is rarer than osteosarcoma, accounting for about 30% of childhood bone tumors. It occurs most frequently in the pelvis or femur. About 25% of children demonstrate metastasis; the lungs, bone, and bone marrow are the most common sites. The prognosis for Ewing sarcoma depends on the extent of metastasis. Radiation, chemotherapy, and surgical excision are usually used in combination.

Cushing syndrome

hyperfunction of the adrenal glands

Idiopathic Thrombocytopenia Purpura

immune response following a viral infection that produces antiplatelet antibodies. These antibodies destroy platelets, which then lead to the development of petechiae, purpura, and excessive bruising. ITP usually develops a few weeks after a viral infection, is most common in young children, and within a few months, most children will recover spontaneously

Humoral Immunity

immunity mediated by antibodies secreted by B cells

Hydroxyurea

increases the percentage of fetal Hgb to help decrease vaso-occlusive events in SCA

Complications of HSCT

infection, electrolyte imbalance, bleeding, and organ, skin, and mucous membrane toxicities. Long-term complications include impaired growth and fertility related to endocrine dysfunction, developmental delay, cataracts, pulmonary and cardiac disease, avascular necrosis of the bone, and development of secondary cancers.

cellular immunity

is functional at birth - the spleen is also functional at birth and is important in producing lymphocytes in response to an infection. T-cells; do not recognize antigens; direct and regulate immune response (helper T-cells); attack infected or foreign cells (killer T-cells and natural killer T-cells); no not cross the placenta

Passive Immunity

is provided when a person is given antibodies to a disease rather than producing them through his or her own immune system. Ex: immunity from the Mother through placenta. IVIG is another form of passive immunity that we "give" to people. Passive immunity lasts only for a few weeks or months. Only active immunity is long-lasting.

Biotinidase deficiency

lack of the enzyme biotinidase results in biotin deficiency; in first weeks or months of life, symptoms such as hypotonia, uncoordinated movement, seizures, developmental delay, alopecia, seborrheic dermatitis, hearing loss, optic nerve atrophy, and intellectual disability develop. Metabolic acidosis can lead to death; treatment is oral free biotin

Hodgkin Lymphoma

malignant B lymphocytes grow in the lymph tissue, usually starting in one general area of lymph nodes. The presence of Reed-Sternberg cells (giant transformed B lymphocytes with one or two nuclei) differentiates Hodgkin disease from other lymphomas. As the cells multiply, the lymph nodes enlarge, compressing nearby structures, destroying normal cells, and invading other tissues. Most common in adolescents and young adults, liked to Epstein-Barr virus. 90% of children survive 5-10 years

Lupus management

management focuses on treating the inflammatory response. Nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and antimalarial agents are often prescribed for the child with mild to moderate SLE. The child with severe SLE or frequent flare-ups of symptoms may require high-dose (pulse) corticosteroid therapy or drugs. When end-stage renal failure develops as a result of glomerulonephritis, dialysis becomes necessary

Hemoglobin

measure of the protein made up of heme (iron surrounded by protoporphyrin) and globin, α- and β-polypeptide chains, primarily responsible for the transport of nutrients and oxygen to the tissues

Mean platelet volume

measurement of the size of the platelets

Management of B-thalassemia major

monitoring hemoglobin and hematocrit and transfusing PRBCs at regular intervals. Blood iron levels are also monitored and iron chelation therapy is provided

Fragile X syndrome

most common inherited cause of intellectual disability. It is the outcome of a mutation of a gene (FMR1 [fragile X mental retardation]) on the X chromosome. This mutation essentially "turns off" the gene, triggering fragile X syndrome. Males and females are both affected, but it is more commonly seen in males, and affected females usually have milder symptoms. Males and females are both fertile and can transmit the disorder to their offspring, so genetic counseling is appropriate. The prognosis for individuals with fragile X is good, and they tend to live a normal life span.

Wilms Tumor

most common renal tumor, the second most common abdominal solid tumor in children, and most commonly occurs between the ages of 2 and 5 years. It usually affects only one kidney. The etiology is unknown, but some cases occur via genetic inheritance. Associated anomalies may occur with Wilms tumor. Wilms tumor demonstrates rapid growth and is usually large at diagnosis. Metastasis occurs via direct extension or through the bloodstream. Wilms tumor most commonly metastasizes to the perirenal tissues, liver, diaphragm, lungs, abdominal muscles, and lymph nodes.

Acquired Hypothyroidism

most commonly results from an autoimmune chronic lymphocytic (Hashimoto) thyroiditis. As a genetic condition, antibodies develop against the thyroid gland, causing the gland to become inflamed, infiltrated, and progressively destroyed. It occurs more often in girls during childhood and adolescence. Less common etiologies include exposure to drugs or substances such as antithyroid medications, anticonvulsants, lithium and amiodarone that interfere with thyroid hormone synthesis, thyroid injury such as radiation, thyroidectomy, and hemangiomas, and iodine deficiency or excess

Chemotaxis

movement of neutrophils toward microorganisms

Systemic Lupus Erythematosus

multisystem autoimmune disorder that affects both humoral and cellular immunity. SLE can affect any organ system, so the onset and course of the disease are quite variable. Only 5% of SLE cases present in children and it is rarely diagnosed before age 9 years, primarily being diagnosed around puberty; less common in whites; The immune complexes accumulate in the tissues and organs, causing an inflammatory response resulting in vasculitis. Injury to the tissues and pain occur. - butterfly rash on cheeks

Non-Hodgkin lymphoma

mutations in the B and T lymphocytes that lead to uncontrolled growth. NHL tends to affect lymph nodes located more deeply within the body. NHL spreads by the bloodstream and in children is a rapidly proliferating, aggressive malignancy that is very responsive to treatment. Prognosis depends on the cell type involved and the extent of the disease at diagnosis. Ninety percent of children with localized NHL have disease-free long-term survival after treatment. Maintenance chemo for 2 years

Congenital hyperthyroidism

neonatal thyrotoxicosis, occurs in infants of mothers with Graves disease. This neonatal condition, can be life-threatening, is a self-limiting disorder lasting 2 to 4 months

Sarcomas

occur in bone and soft tissue in children. Bone tumors are most often diagnosed in adolescence, whereas soft tissue tumors tend to occur in younger children

Secondary Immunodeficiency

occurs as a result of chronic illness, malignancy, use of immunosuppressive medication, malnutrition or protein-losing state, prematurity, or HIV infection

SIADH

occurs when ADH (vasopressin) is secreted in the presence of low serum osmolality because the feedback mechanism that regulates ADH does not function properly. ADH continues to be released, and this leads to water retention, decreased serum sodium due to hemodilution, and extracellular fluid volume expansion. SIADH can be caused by CNS infections such as meningitis, head trauma, brain tumors, intracranial surgery, and certain medications such as analgesics, barbiturates, or chemotherapy.

allele

one of two or more alternative versions of a gene at a given position on a chromosome that imparts the same characteristic of that gene

CAH - acute adrenal crisis

persistent vomiting, dehydration, hyponatremia, hyperkalemia, hypotension, tachycardia, and shock

ITP treatment

platelet counts below 10,000/mm3, corticosteroids may be administered for 2 to 3 weeks. A single dose of IV immunoglobulin (IVIG) may be used as an adjunct. Platelet transfusions are not indicated unless life-threatening bleeding is present. Refer the child for follow-up care with a pediatric hematologist. ITP is usually self-limiting, but if it persists for a year or longer, splenectomy may be indicated

SCID management

practice good hand washing. The child must not be exposed to persons outside the family, particularly young children. Instruct families to administer prophylactic antibiotics if prescribed. Educate families that the child should not receive live vaccines. Encourage adequate nutrition; supplemental enteral feedings may be necessary in the child with poor appetite. Administer IVIG infusions as prescribed and monitor for adverse reactions. Bone marrow transplant - severe cutaneous human papillomavirus may occur after stem cell transplant, even years later

Anterior Pituitary

primary disorders in children include growth hormone (GH) deficiency, hyperpituitarism, and precocious puberty

Opsonization

process of making microorganisms more susceptible to phagocytosis

Severe Combined Immune Deficiency

rare X-linked or autosomal recessive disorder; it can occur in girls or boys. SCID is characterized by absent T-cell and B-cell function. There are at least five types of SCID, classified according to the exact genetic defect. SCID is a potentially fatal disorder requiring emergency intervention at the time of diagnosis. hematopoietic cell transplantation is necessary - Use only cytomegalovirus (CMV)-negative, irradiated blood or platelets if transfusion is necessary in the infant with SCID. CMV-positive blood could cause an infection in the infant, and T lymphocytes in blood products may cause fatal graft-versus-host disease to occur

Hypogammaglobulinemia

refers to a variety of conditions in which the child does not form antibodies appropriately. It results in low or absent levels of one or more of the immunoglobulin classes or subclasses. Therapeutic management of most types of hypogammaglobulinemia is periodic administration of intravenous immunoglobulin (IVIG).

Allogenic HSCT

refers to transplantation using stem cells from another individual that are harvested from the bone marrow, peripheral blood, or umbilical cord blood. Allogenic HSCT requires human leukocyte antibody (HLA) matching for antigen-specific sites on the leukocytes. Closely matched HLA donors may be difficult to find from a donor listing, and sibling donors are often the closest match.

Radiation for brain tumors

reserved for children older than age 3 years because it can have long-term neurocognitive effects

Thymus

responsible for the production of lymphocyte T cells as well as for the development and maturation of peripheral lymphoid tissue, is quite enlarged at birth and remains so until about 10 years of age. It then involutes slowly throughout adulthood.

Secondary Immunodeficiencies

result of chronic illness, malignancy, use of immunosuppressive (lowering the immune response) medication, malnutrition or protein-losing state, prematurity, or HIV infection.

Diabetes Insipidus

results from deficiency in anti-diuretic hormone secretion (= vasopressin). ADH is responsible for urine concentration, thus when deficient, the kidney looses mass amounts of H20 and retains Na+ (serum) . Children can loose up to 3 L/m squared of urine per day. The most common symptoms include increased thirst and urination of which symptoms usually come on abruptly rather than subtle over time like other endocrine disorders.

Active Immunity

results when exposure to a disease organism triggers the immune system to produce antibodies to that disease. Immunizations are a type of active immunity that encourages the body to develop antibodies to that immunization. Once antibodies are developed, exposure to the disease in future, the immune system will recognize it and immediately produce the antibodies needed to fight it.

Acute Myelogenous Leukemia

second most common type of leukemia in children, with a peak incidence in the adolescent years; affects the myeloid cell progenitors or precursors in the bone marrow, resulting in malignant (invasive and fast-growing) cells. long-term survival rate is 50%. Less responsive to treatment than ALL. Often present with a WBC count >100,000

Monitoring for GVHD post stem cell transplant

severe diarrhea, maculopapular rash(may be first sign) progressing to redness or desquamation of the skin (palms or soles); administer immunosuppressive drugs such as cyclosporine, tacrolimus, or mycophenolate

ITP complications

severe hemorrhage and bleeding into vital organs and intracranial hemorrhage, although these rarely occur

Adrenal cortex

site of production of glucocorticoids (for blood glucose regulation), mineralocorticoids (for sodium retention), and androgenic and estrogenic steroid compounds (for phallic and secondary sex development).

Down syndrome characteristics

slanted eyes and depressed nasal bridge), along with varying degrees of other health problems (e.g., cardiac defects, thyroid disease, visual and hearing impairment, intestinal malformations, and an increased susceptibility to infections) - 85% of trisomy 21 conceptions result in spontaneous abortion; likelihood of having a baby with Down syndrome is 1 in 1,000 in women younger than age 30, with the incidence increasing significantly with maternal age

Rhabdomyosarcoma

soft tissue tumor that usually arises from the embryonic mesenchymal cells that would ordinarily form striated muscle. The most common locations for the tumor are the head and neck, genitourinary tract, and extremities (Fig. 24.17). The tumor is highly malignant and spreads via local extension or through the venous or lymphatic system, with the lung being the most common site for metastasis. Diagnosis is usually made between 2 and 5 years of age, with 70% of all rhabdomyosarcomas diagnosed by age 10 years

genotype

specific makeup of an individual

Complications of B thalassemia major

splenomegaly, endocrine abnormalities, osteoporosis, liver and gallbladder disease, and leg ulcers. Left untreated, is fatal usually by age 5 years, but the use of blood transfusions and chelation therapy has increased the life expectancy

metastasis

spread of cancer to other sites;

Antidiuretic hormone

stored in the pituitary, made in the hypothalamus; involved in concentrating the urine from the kidneys by stimulating reabsorption of water in the renal collecting tubules through increased membrane permeability; with a deficiency, the kidneys lose massive amounts of water

Precocious Puberty

the child develops sexual characteristics before the usual age of pubertal onset. In precocious puberty, secondary sex characteristics develop in girls before the age of 8 years and in boys younger than 9 years. The disorder is more common in females and the majority of the time the cause is unknown in females, while in males a structural CNS abnormality is often present

Untreated precocious puberty

the child may become fertile. Since the hormones stimulate rapid growth, the child may appear taller than peers but will reach skeletal maturity and closure of the bone growth plates, which results in overall short stature

phenotype

the outward characteristics of the individual

Adrenal Medulla

the site of production of the catecholamines (dopamine, norepinephrine, and epinephrine) and is under neuroendocrine control

Signs of thyroid storm

the sudden release of high levels of thyroid hormones results in thyroid storm, which progresses to heart failure and shock. Immediately report the signs of thyroid storm, which include sudden onset of severe restlessness and irritability, fever, diaphoresis, and severe tachycardia

Thalassemia major (Cooley anemia)

the β-globulin chain in hemoglobin synthesis is reduced or entirely absent. A large number of unstable globulin chains accumulate, causing the RBCs to be rigid and hemolyzed easily. - severe hemolytic anemia and chronic hypoxia. In response to the increased rate of RBC destruction, erythroid activity is increased - massive bone marrow expansion and thinning of the bony cortex. Growth retardation, pathologic fractures, and skeletal deformities (frontal and maxillary bossing)

X-Linked Recessive Inheritance

there are more affected males than females because all the genes on a man's X chromosome will be expressed since a male has only one X chromosome. On the other hand, a female will usually need two abnormal X chromosomes to exhibit the disease and one normal and one abnormal X chromosome to be a carrier of the disease. There is no male-to-male transmission (since no X chromosome from the male is transmitted to male offspring), but any man who is affected with an X-linked recessive disorder will have carrier daughters (hemophilia and Duchenne muscular dystrophy)

Thalassemia major

to survive the child requires ongoing medical attention, blood transfusions, and iron removal (chelation therapy).

Neuroblastoma

tumor that arises from embryonic neural crest cells, is the most common extracranial solid tumor in children. It most frequently occurs in the abdomen, mainly in the adrenal gland, but it may occur anywhere along the paravertebral sympathetic chain in the chest or retroperitoneum. When diagnosed past infancy or early toddlerhood, by the time of diagnosis, the neuroblastoma has usually already metastasized. Metastasis to bone is worse

Congenital hypothyroidism (cretinism)

usually results from failure of the thyroid gland to migrate during fetal development. This results in malformation or malfunction of the thyroid gland, which leads to insufficient production of the thyroid hormones that are required to meet the body's metabolic and growth and development needs. Congenital hypothyroidism leads to low concentrations of circulating thyroid hormones. The later it is diagnosed, the greater the disability is. Most newborns have few if any symptoms and the occurrence is sporadic, not typically hereditary; therefore, most cases of congenital hypothyroidism are detected via newborn screening programs.

10 Warning signs of PI

vFour or more new episodes of acute otitis media in 1 year vTwo or more episodes of severe sinusitis vTreatment with antibiotics for 2 months or longer with little effect vTwo or more episodes of pneumonia in 1 year vFailure to thrive in the infant vRecurrent deep skin or organ abscesses vPersistent oral thrush or skin candidiasis after 1 year of age vHistory of infections requiring IV antibiotics to clear vTwo or more serious infections such as sepsis Family history of primary immunodeficiency

Trisomy 18

•1 in 6,000 births •Presence of three number 18 chromosomes - Prominent occiput, low-set ears, short eyelid fissures, severe intellectual disability, severe hypotonia, webbing, clenched fist with index finger over third digit and fifth digit overlapping the fourth, hypoplasia of fingernails, narrow hips with limited abduction, short sternum, congenital cardiac defects - usually don't survive past 1 year

Diabetic ketoacidosis sx

•Anorexia, nausea and vomiting. •Lethargy, stupor, altered level of consciousness, confusion. •Decreased skin turgor. •Abdominal pain. •Kussmaul respirations and air hunger. •Fruity (sweet-smelling) or acetone breath odor. •Presence of ketones in urine and blood. Tachycardia, and if left untreated, coma and death

Multifactorial genetic disorders

•Cleft lip and cleft palate. •Spina bifida. •Pyloric stenosis. •Clubfoot. •Congenital hip dysplasia. •Cardiac defects. •Other nontraditional inheritance patterns (mitochondrial disease, genomic imprinting).

Down syndrome risk factors

•Lack of prenatal care or screening •Abnormal prenatal screening or diagnostic tests for Down syndrome (e.g., fetal nuchal translucency, triple/quadruple screen, ultrasound, amniocentesis) •Maternal age older than 35 years

Significant Findings in Medical History of a Child With a Genetic Disorder

•Maternal age older than 35 years or paternal age older than 50. •Repeated premature births, breech delivery. •Congenital hip dysplasia. •Abnormalities found on ultrasound or in prenatal blood screening tests. •Amniotic fluid abnormalities. •Multiple births. •Exposure to medications and known teratogens. Decreased fetal movement

Turner Syndrome

•Webbed neck. •Low posterior hairline. •Wide-spaced nipples. •Edema of the hands and feet. •Amenorrhea. •No development of secondary sex characteristics. •Sterility. Perceptual and social skill difficulties. - female - growth with short stature and slow growth being a characteristic finding and often the first indication of a problem - no cure, management of health issues

IgG subclass deficiency

Low levels of one or more of the subclasses of IgG; Recurrent respiratory infections; Some children outgrow this condition; Treatment of respiratory infections; Administration of IVIG is helpful in some children

Target BG levels

Normal levels are as follows: nondiabetics: 70 to 110 mg/dL; (target levels should be individualized), children and adolescents with type 1 DM: before meals 90 to 130 mg/dL, at bedtime 90 to 150 mg/dL

RBC production

Starts at 8 weeks gestation in embryo in liver. EPO is derived in liver of fetus, then kidneys take over after birth.

translocation

The most clinically significant structural abnormality. This occurs when a portion of one chromosome is transferred to another chromosome and an abnormal rearrangement is present.

Phagocytosis

Under conditions of stress, the newborn and infant exhibit decreased phagocytic activity. The complement system, which is responsible for opsonization and chemotaxis, is immature in the newborn but reaches adult levels of activity by 3 to 6 months of age. The infant's phagocytic cells (neutrophils and monocytes) demonstrate decreased chemotaxis, reaching adult levels when the child is several years old.

Mean Corpuscular Hemoglobin

a calculated value of the oxygen-carrying capacity of the Hgb in the RBCs

Red cell distribution width (RDW)

a calculated value that is a measure of the width of RBCs

Mean corpuscular hemoglobin concentration (MCHC)

a calculated value that reflects the concentration of Hgb inside the RBC

Karyotype

a pictorial analysis of chromosomes. It depicts a systematic arrangement of chromosomes of a single cell by pairs - is often used in prenatal testing to diagnose or predict genetic diseases.

Henoch-Schönlein Purpura

affects mostly male young children and develops in association with a viral or bacterial infection (most often respiratory); The classic presentation is vasculitis with IgA-dominant immune deposits affecting small vessels. These small vessels are generally in the skin, gut, and kidney. In most children the course of the disease is benign and the prognosis is good. In a few children ongoing nephrotic syndrome may occur as a result of renal injury, and those children may have htn. Pulmonary, cardiac, and neuro complications can also occur. Serum IgA may be elevated

Maple sugar urine disease

affects the metabolism of amino acids. A deficiency in the enzyme that metabolizes leucine, isoleucine, and valine, which are components of protein often referred to as the branch chain amino acids. These amino acids then accumulate in the blood and cause damage to the brain; Special low-protein diet, will vary based on severity of symptoms; limited natural protein requires a medical food product supplements such as BCAA-free Thiamine supplements may be given Diet must be continued throughout life Liver transplant has been performed with good results (child on normal diet posttransplant)

Hematocrit

an indirect measure of RBCs (number and volume)

The nurse is reviewing the chart of a child with juvenile idiopathic arthritis. The nurse notes that there is involvement of five joints symmetrically. What is the technical name for this type of arthritis?

b. Polyarticular. Polyarticular juvenile idiopathic arthritis involves five or more joints and often affects the body symmetrically. Rationale: Pauciarticular involves four or fewer joints, quite often the knee. Systemic involves fever and rash in addition to joint involvement. Primary is not a type of juvenile idiopathic arthritis.

Dexamethasone

can be used to reduce intractanial inflammation preoperatively

Tay-Sachs

caused by insufficient activity of an enzyme called hexosaminidase A, which is necessary for the breakdown of certain fatty substances in brain and nerve cells; Anticonvulsants may be given to control seizures Death usually occurs in early childhood, by age 4 or 5; jewish descent

RBC indices

cell diameter, Hgb/RBC

Disseminated Intravascular Coagulation

complex condition that leads to activation of coagulation; it usually occurs in critically ill children. Common triggers of DIC include septic shock, presence of endotoxins and viruses, tissue necrosis or injury, and cancer treatment; thrombin is generated, fibrin is deposited in the circulation, and platelets are consumed. Deficiencies of coagulation and anticoagulation pathways occur. Hemorrhage and organ tissue damage result and can be irreversible

Phenylketonuria (PKU)

deficiency in a liver enzyme leading to inability to process the essential amino acid phenylalanine properly. Phenylalanine accumulation can lead to brain damage unless PKU is detected soon after birth and treated - no sx, identified in newborn screening; If undiagnosed, most common sign is developmental delay along with vomiting, irritability, eczema-like rash, mousy odor to urine, microcephaly, seizures and behavioral abnormalities - Low-phenylalanine diet, Phenylalanine is found mostly in protein-containing foods such as meat and milk

Tyrosinemia

deficiency in an enzyme essential in the metabolism of tyrosine; accumulation of the by-products results in liver and kidney damage; Diet low in phenylalanine and tyrosine

Turner syndrome support

emphasis on need for families to understand that short stature and infertility are likely. -Explain that intellectual disability varies, some without deficit, others with some learning disabilities - GH replacement to initiate puberty and complete growth

Young children have larger...

lymph nodes, tonsils, and thymus compared to adults

Platelet count

number of platelets per blood volume

B-cells

responsible for the formation of antibodies (specific immunity)

RBC count

the actual number of counted RBCs in a certain volume of blood

Klinefelter sx

•Decreased facial hair •Gynecomastia •Lack of secondary sex characteristic •Decreased pubic hair •Hypogonadism (underdeveloped testes) •Infertility •Tall - long legs and short torso •Varying cognitive impairments - testosterone replacement - explain alternatives for reproduction

Inborn errors of metabolism

•Glucose: may be elevated •Ammonia: may be elevated •Blood gases: may have low bicarbonate and low pH, metabolic acidosis (respiratory alkalosis may also be seen, especially when high ammonia levels are present)

X-linked recessive disorders

•Hemophilia •Color blindness (red/green [most common], blue/green) •Duchenne muscular dystrophy

Autosomal Dominant Genetic Disorders

•Neurofibromatosis •Huntington disease •Achondroplasia •Polycystic kidney disease osteogenesis imperfect type 1

Calculating ANC

% of banded + segmented neutrophils x number of WBC = ANC

Thalassemia minor

(also called β-thalassemia trait): leads to mild microcytic anemia; often no treatment is required.

Avascular necrosis

(lack of blood supply to a joint, resulting in tissue damage) may occur as an adverse effect of long-term or high-dose corticosteroid use. Teach families to report new onset of joint pain, particularly with weight bearing, or limited range of motion to their physician or nurse practitioner

Hyperthyroidism sx

- Goiter present in most - hyperactivity, heat intolerance, emotional lability, and insomnia - problems with sleep, school performance, and distractibility - may complain of diarrhea, excessive perspiration, and muscle weakness. -PE: older child may reveal: increased growth rate, weight loss despite an excellent appetite, hyperactivity; warm skin, tachycardia; fine tremors; and ophthalmic changes (exophthalmos) -May also have elevated BP with vitals

Hbg electrophoresis

- Measures the type of Hgb (Hgb S, Hgb SS, or Hbg F); done if newborn screen comes back abnormal to tell if baby has disease or trait

Preventing infection during chemo:

- meticulous hygeine - avoid all known ill contacts, especially chicken pox - immidiately notify physician if exposed to chicken pox (varicella zoster immunoglobulin VZIG will be given within 72h) - no live vaccines - administer BID trimethoprim-sulfamethoxazole for 3 consecutive days each week as ordered for pneumocystis pneumonia prevention

Nursing education for Hypogammaglobulinemia

- prevention of infection. Teach family to practice good hand washing. The child must not be exposed to persons outside the family, particularly young children. Instruct families to administer prophylactic antibiotics if prescribed. Educate families that the child should not receive live vaccines

Neutropenic precautions

- private room - hand hygiene - vitals q4h - assess for infection q8h - avoid rectal suppositories, enemas, or exams; urinary cath; invasive procedures - no raw fruit, fresh flowers, or live plants - mask on child when not in the room - dental care with soft toothbrush if platelet count is adequate

Monosomies

-Only one copy of a particular chromosome instead of the usual pair. -All fetuses spontaneously abort in early pregnancy; survival occurs only in mosaic forms of these disorders.

Foods rich in iron

-Red meats (easiest for the body to absorb) -Tuna and salmon -Eggs -Tofu -Enriched grains -Dried beans, peas, and fruits -Leafy green vegetables -Iron-fortified breakfast cereals

Trisomies

-Three of a particular chromosome instead of the usual two. -Most common trisomies include trisomy 21 (Down syndrome), trisomy 18, and trisomy 13.

Iron dose for prophylaxis

1 to 2 mg/kg/day, up to a maximum of 15 mg elemental iron per day

Iron dose for mild to moderate deficiency

3 mg/kg/day of elemental iron in one or two divided doses

Iron dose for severe deficiency

4 to 6 mg/kg/day of elemental iron in three divided doses

Osteosarcoma

60% of bone cancer in children, occurring most frequently in adolescents, males, and Whites. It presumably arises from the embryonic mesenchymal tissue that forms the bones. The most common sites are in the long bones, particularly the proximal humerus, proximal tibia, and distal femur. Complications include metastasis, particularly to the lungs and other bones, and recurrence of disease within 3 years, primarily affecting the lungs. - Radiation is not helpful

Baseline Hgb for SCA

7-10mg/dL; - Significantly lower with splenic sequestration, acute chest syndrome, or aplastic crisis

A1c goal for Type 1 DM

<7.5%