Pathophysiology FINAL EXAM :D

autosomes

22 of the 23 pairs These chromosomes have the same appearance for all individuals and have been given an numeric description to classify them These are the 22 sets of Non-sex chromosomes

sex chromosome

23rd pair of chromosomes The sex chromosome contains the genetic information that will determine the sex of the zygote Females have two X's, Males have one X and one Y Because females can only give an X chromosome, the male gives the chromosome that will determine if the baby will be a male (Y) or a female (X)

Nephritis Syndrome's primary sign is: A. Hematuria B. Proteinuria C. Glucosuria D.Ketosis

A

fragile X syndrome

A abnormal constriction or the presence of a fragile site on the long arm of the X chromosome Associated with developmental delay Second in occurrence to Down syndrome Higher incidence in males because they have only one X chromosome

autosomal dominant disorders

Abnormal allele is dominant, normal allele is recessive, and the genes exist on a pair of autosomes Example: Neurofibromatosis (skin tumors) Involves any of the chromosomes, except for the sex chromosomes (X and Y) Only one abnormal gene from one parent is needed in order to inherit the disease In a person with an autosomal dominant gene, 50% of his/her children will have the disease

hyperparathyroidism

Abnormal increased secretion of PTH Over-secretion of PTH will result in increased serum calcium level

congenital disorder

Abnormalities of a body structure and/or function present at birth may be caused by: Defective genes Chromosome aberrations Environmental factors that occur during embryonic or fetal development

genetic disorder

Abnormality in gene expression in a group of cells during development Genetic disorders may not appear until later in life may be caused by: Changes in DNA sequence Chromosome rearrangements Abnormal number of chromosomes

quick differences between acute and chronic kidney injury

Acute Kidney Injury (Acute Kidney Failure) (high mortality rate 25%-80%) Abrupt in onset Often reversible if recognized early and treated promptly Chronic Kidney Disease Irreparable damage to the kidneys Develops slowly Typically requires dialysis or transplant

what is nephritis syndrome? (glomerular disorder)

Acute inflammatory process of the glomeruli Inflammation occludes the glomerular capillary lumen Glomerulonephritis is a form of Nephritic Syndrome

Decrease in Corticosteroid Secretion is called:

Addison's Disease Adrenal Insufficiency

The chief "mineralocorticoid" secreted by the adrenal cortex is... a.Cortisol b.Epinephrine c.Aldosterone d.Dopamine

Aldosterone

what is the principle mineralocorticoid?

Aldosterone

The adrenal cortex secretes which of the following hormones? Select all that apply a.Epinephrine b.Cortisol c.Norepinephrine d.Dopamine e.Aldosterone

Cortisol and Aldosterone

Excess secretion of ACTH will result in__________. a.Addison's Disease b.Grave's Disease c.Hashimoto Disease d.Cushing Syndrome

Cushing Syndrome

Increase in Corticosteroid Secretion is called

Cushing's Syndrome Adrenal Hypersecretion

what are the congenital causes of lower urinary tract obstruction?

External Meatus Stenosis Damage to Sacral Nerves Spina Bifida, Myelomeningocele

What systemic diseases is chronic kidney disease associated with?

HTN, diabetes mellitus, chronic glomerulonephritis

haploid cells

Have only one set chromosomes - 23 chromosomes total Reproduce with meiosis

what is the diuretic phase of AKI?

High urine volume Kidneys have recovered their ability to excrete wastes but not to concentrate the urine Osmotic Diuresis due to high urea concentration in the glomerular filtrate Leads to... Hypovolemia, Hypotension, Dehydration Hyponatremia, Hypokalemia THEN later or at the END of this phase, Acid Base balance, Electrolyte balance, BUN and Creatinine start to stabilize

homozygous and heterozygous

Homozygous: Alleles in a given pair that are identical Heterozygous: Alleles in a given pair that encode different versions of a protein

Dilation of structures above the site of the obstruction potentially leads to...?

Hydroureter Dilation of the ureters Hydronephrosis Dilation of the renal pelvis and calyces (when urine needs to be drained directly into the bag)

cushing's syndrome clinical manifestations

Hypokalemia Metabolic Alkalosis Hypernatremia Hypertension Edema of lower extremities Hyperglycemia Truncal Obesity Thin Extremities Muscle wasting Moon Face Buffalo Hump Thin/ fragile skin Bruising Poor wound healing Compromised immune system Inhibition of inflammation process

Clinical Manifestations of Addisonian "Crisis"

Hypotension Tachycardia Dehydration Hyponatremia Hyperkalemia Hypoglycemia Fever Weakness Confusion Shock Circulatory collapse

what is chronic pyelonephyritis?

Persistent or recurring episodes of acute Pyelonephritis Results in scarring of one or both kidneys

how is acute kidney injury classified?

Prerenal Before the kidneys Intrarenal In the kidneys Postrenal After the kidneys

what can be the clinical progression of AKI?

Prerenal and Postrenal AKI usually resolves quickly with treatment Unless there is resultant intrarenal damage *Intrarenal AKI has a more prolonged course*

what does recurring episodes of acute pyelonephyritis lead to physically?

Progressive inflammation Destruction of tubules Scarring (inability to concentrate urine effectively) Inability to concentrate urine Eventually chronic kidney failure reflux of urine is the most common cause

what is chronic kidney disease?

Progressive loss of renal function Reduction in the GFR due to reduction in the number of functioning nephrons Signs of symptoms typically occur gradually May not become evident until the disease is advanced Due to the Compensatory ability of the kidneys (RAAS system and Aldosterone)

what are the clinical findings of nephrotic syndrome?

Proteinuria Hypoalbuminemia Edema Hyperlipidemia and Lipiduria Body makes more lipoproteins due to the low oncotic pressure (atherosclerosis) Vitamin D deficiency Reduced vascular fluid volume Stimulates the renin -angiotensin system which worsens the edema and leads to hypertension

what is postrenal AKI?

Rare Caused from Obstruction below the kidneys (kidney stone) Bilateral ureteral obstruction Neurogenic Bladder Bladder outlet obstruction *Prostate Hyperplasia* (narrow urethra with age) Waste builds up in kidneys Over time, this fluid buildup can prevent the normal outflow of urine from the kidney.

when kidneys are failing, what are they failing specifically to do?

Remove waste products from the blood Regulate fluid, electrolyte and pH balance

what are the complications from an upper urinary tract obstruction?

Stasis of Urine Leads to infection and stone formation (calcium salts can form stones) Progressive dilation of the structures above the site of the obstruction Glomerular filtration continues ... The continued filtration leads to increased pressure in the renal pelvis The increase pressure compresses renal vasculature and thus... Leads to atrophy of renal tissue

Addison's disease clinical manifestations

Symptoms will not be evident until 90% of the adrenal cortex is not working Weakness, fatigue Weight loss/ Anorexia Hyperpigmentation of the skin Hypotension Hyponatremia Hyperkalemia Nausea, vomiting, and diarrhea

Sex linked (X linked) disorders

The Y chromosome contains only a few dozen genes, so most sex-linked traits are located on the X chromosome and are said to be X-linked Sex-linked (X-linked) disorders are usually expressed by males because females have another X chromosome to mask the abnormal gene Most X-linked disorders are recessive Affected males cannot transmit the genes to sons, but they can to all daughters ´Sons will exhibit trait, females only if homozygous ´Example: Hemophilia A

penetrance

The ability of a gene to express its function Expressed as a percentage Example: 75% penetrance - means 75% of persons of a particular genotype present with a recognizable phenotype

phenotype

The complete physical, biochemical, and physiologic makeup of an individual that is determined by the interaction of both makeup and environmental factors Physical characteristics of an individual; what they actually look like

aneuploidy

change in chromosome number (+1 or -1) failure of the chromosomes to separate during meiosis or mitosis Occurs in autosomes or in sex chromosomes Non-disjunction - gives rise to uneven number of chromosomes Example: Trisomy 21 - three chromosomes on #21(Down Syndrome)

what does the release of Corticotropin Releasing Hormone (CRH) stimulate?

the Anterior Pituitary release of Adrenocorticotropic Hormone (ACTH) which stimulates the release of the adrenal hormones

monosomy

the presence of only one member of a chromosome pair Defects associated with monosomy of the autosomes are severe and typically end in spontaneous abortion When the defect occurs on the X chromosome then the defects are less severe Example: Turner syndrome

chromosome

well defined structure of DNA, one copy comes from the mother gamete and the other comes from the father gamete provides the genetic information that will differentiate into building the framework of proteins for the zygote humans have 23 pairs of chromosomes (46 total) 23 come from their mother and 23 come from their father

what does DNA stand for?

•D = deoxyribose (sugar) •N = nitrogenous bases: Cytosine and guanine (C and G) Adenine and thymine (A and T) •A - Acid

What are kidney stones?

◦Also called... ◦Nephrolithiasis ◦Urinary Calculi ◦Urinary stones Masses of crystals, protein, or other substances that normally are eliminated in the urine Form within and may obstruct the urinary tract

what are the clinical manifestations of chronic kidney disease? *Neurologic*

"Uremic Encephalopathy" Due to high Urea and metabolic wastes make sure to check for LOC

what are the clinical findings of chronic kidney disease? *Decreased creatinine and urea clearance*

*

what are the four basic types of stones?

*Calcium* Most common Seen with Hypercalcemia, Immobilization and hyparathyroidism because PTH puts calcium in the blood *Magnesium Ammonium Phosphate* Seen with Urinary Tract Infections Forms in Alkaline urine & in the presence of bacteria *Uric Acid* Seen in persons with Gout *Cystine* Inherited disorder of amino acid metabolism

what are the clinical findings of chronic kidney disease? *Increased serum creatinine and BUN*

*Increased serum creatinine and BUN* "Azotemia"... elevated levels of nitrogenous wastes in the blood

what is intrarenal AKI?

*Internal structures of the kidney are damaged* *Not typically reversible* Many causes, including... Prolonged renal ischemia Injury from nephrotoxic drugs (many antibiotics), contrast media. poisons... Blood transfusion reaction Glomerulonephritis, Pyelonephritis... GFR may not improve after insult

what is prerenal acute kidney injury?

*Most common cause of Acute renal failure* Caused by poor blood flow to the kidney Hypovolemia Hypotension Heart Failure Shock... GFR declines because of the decrease in perfusion to the kidneys *Reversible if treatment occurs before permanent damage to the tissues* theres excessive vomiting and bleeding

what happens inthe oliguric phase?

*Oliguria* The most common initial symptom of AKI Not all patients with AKI will experience Oliguria however Onset and duration of the Oliguria depends on the cause of the AKI and the extent of damage The longer the Oliguric Phase lasts, the poorer the prognosis *Urine Specific Gravity may be consistently 1.010* Due to a loss of concentrating ability by the kidneys *Fluid Volume Retention* Due to Oliguria *Metabolic Acidosis* Kidneys cannot excrete hydrogen ions Serum bicarb production is decreased

allele

*SPECIFIES THE FORM THE GENE TRAIT TAKES* Genes encoding a particular trait that reside on corresponding locations of paired chromosomes Hair color, blood type, eye color

gene

*SPECIFIES THE TRAIT* A specific DNA molecule pattern of genetic material that provides a blueprint to assemble specific proteins necessary for expression Basic unit of inheritance

other aspects of the oliguric phase? (yikes sorry theres a lot)

*Sodium Imbalance* Kidneys cannot conserve Sodium Leads to Hyponatremia *Potassium Imbalance* Kidneys cannot excrete potassium Leads to Hyperkalemia (dysrhythmias) *Elevated Serum BUN and Creatinine* Neurologic Changes Occur due to accumulation of nitrogenous waste products Can be mild or severe

what are the factors that encourage stone formation?

*Supersaturated urine with stone components* Presence of the mineral in a higher concentration than the volume is able to dissolve the mineral Diet and certain medications may lead to supersaturation (diet high in purines, increases uric acid formation and increases stone formation) *Environment that allows for stones to form* Precipitation of a salt from liquid to solid state Due to temperature and pH Absence of natural stone inhibitors Potassium Citrate, Tamm-Horsfall Protein...

Addison's disease

All three adrenal corticosteroids are reduced (Glucocorticoids, Mineralocorticoids, Androgens) Causes of Addison's Disease: Autoimmune response (Most common cause)•Pituitary Disease

what is interstital cystits?

Also called "Painful Bladder Syndrome" Chronic condition Pathophysiology is not totally understood Thought to be caused from Mast Cell Activation and permeability changes Manifestations: Same symptoms as bacterial UTI, But with negative cultures (no bacteria involved)

cri du chat syndrome

Also known as 5p minus syndrome or Cat cry syndrome Caused by the deletion of genetic material from the small arm (p arm) of chromosome 5 most often a genetic condition that is not inherited Typically the result of a random event in the formation of reproductive cells or early on in fetal development ´Infants with this condition will demonstrate: ´High-pitched cry: cat-like ´Intellectual disability/developmental delay ´Small head size - microcephaly ´Low birth weight ´Weak muscle tone in infancy ´Distinctive facial features: rounded face, widely spaced eyes, flat and wide nasal bridge, epicanthal folds

what is a lower urinary tract infection?

Also termed "Acute Cystitis" Inflammation of the bladder caused by bacteria Most common pathogen is Escherichia coli Bacteria contaminates the sterile bladder typically by moving from the perineum, into urethra and bladder

what are the clinical manifestations of chronic kidney disease? *Hematalogic*

Anemia Due to inadequate production of erythropoietin from the kidneys (can't keep up to make enough RBC's) Leads to a decrease in red blood cell production. Defective platelet aggregation Leads to an increase in bleeding tendencies

ACTH is a hormone secreted from.... a.Anterior Pituitary Gland b.Posterior Pituitary Gland c.Hypothalamus d.Adrenal Gland

Anterior Pituitary Gland

what is the pathophysiology of gomerulonephritis?

Antigen-antibody complexes deposit in the glomeruli (these are really big and cause inflammation). Glomeruli become edematous and infiltrated with WBC's Occlude the capillary lumen Results in a decrease in filtration Results in an accumulation of water and retention of sodium Expands the plasma and interstitial fluid volumes (because sodium enters) Leads to circulatory congestion and edema

what can neurogenic bladder disorders lead to?

Areflexive bladder dysfunction Bladder overactivity disorders (failure to store urine- incontinent) Most commonly from Spinal Cord Lesions Spinal Cord Injury, Tumors...

Neurofibromatosis

Autosomal dominant disease: defect on chromosome 17 in type 1 The expressivity of the disease varies from dark spots on the skin to malignant neurofibromas

The most common type of Acute Renal Failure (ARF) is: A. Intrarenal acute kidney injury (AKI) B. Prerenal AKI C. Postrenal AKI

B

Nephrotic Syndrome is characterized by A. Hematuria B. Proteinuria How much? why?

B How much? 3.5 grams of protein is lost into the urine per day! Why?Because there is a leaky or damaged glomerulus that allows for proteins like albumin to get through the glomerulus and enter the urine, this will draw fluid volume with it into the urine

where can the lower urinary obstruction be?

Bladder neck, sphincter, urethra Can be... An acquired or congenital problem A partial or complete obstruction An acute or chronic problem

what are the compensatory changes to a lower urinary tracts obstruction?

Bladder will hypertrophy Becomes hypersensitive to the pressure within from urine Bladder contraction strength increases Bladder spasms occur Patient experiences urgency and frequency Bladder may fatigue from excess workload Results in urine retention

what are the clinical manifestations of chronic kidney disease? *Integumentary*

Bruising is common Pruritus *Uremic frost* With late stages of CKD Powdery deposits of urea and uric acid salts on the skin Result of severe uremia. May have bronze color to skin due to retention of urotoxins or pallor due to anemia

If serum calcium level is high, _____ will be secreted. a.Calcitonin b.PTH

Calcitonin

multifactoral trait

Caused by genetic AND environmental or lifestyle factors Examples: Coronary Artery Disease, Hypertension, Cancer

polygenic trait

Caused by the effects of multiple genes Cleft lip, Club foot

what is nephrotic syndrome characterized by?

Characterized by severe proteinuria (Albumin) Exceeds 3.5 g/day More common in children than in adults can be idiopathic or secondary disorder like from diabetes -if drawing big particles into the urine, loses more fluid and also draws more fluid into the vascular space (3rd spacing) because of the loss of albumin

what can an upper urinary tract obstruction be caused by?

Congenital anomalies Kidney stones Scar tissue Tumor

The chief "glucocorticoid" secreted by the adrenal cortex is... a.Cortisol b.Epinephrine c.Aldosterone d.Dopamine

Cortisol

what is the principle glucocorticoid?

Cortisol

with all acute kidney injuries what will the patients have?

Decline in kidney function Decrease in glomerular filtration Accumulation of waste products Elevated creatinine and BUN more common in elderly patients innability to maintain fluid and electrolyte balance

excessive serum calcium levels will result in what?

Decreased bone density/ Osteoporosis Back Ache General weakness/ Decreased muscle tone Urinary calcium Calculi formation Polyuria Anorexia, nausea, vomiting Depressed reflexes Delirium, confusion, coma

types of changes in chromosomal structure

Deletions: a piece of a chromosome breaks off and is removed from the original chromosome Duplications: a segment of DNA breaks off and attaches onto the sister chromosome Inversions: a piece of a chromosome breaks off, flips over, and realigns in the original chromosome Translocations: occurs when there are simultaneous breaks in two chromosomes from different pairs and chromosome parts are exchanged

what are the clinical manifestations of kidney stones?

Determined largely by the size of the stone and it's ability to pass through the urinary tract (less than 5cm can pass through the ureter without a problem) Renal colic Acute, intermittent and severe pain Located in the flank & upper, outer quadrant of the abdomen. May radiate to the back and perineum Nausea/vomiting (because severe pain) May have hematuria Microscopic or gross

down syndrome characteristics

Developmental/cognitive delay Decreased tone Increased risk of congenital heart disease GI anomalies (duodenal atresia, Hirschprungs) Facial characteristics: flat occiput, epicanthal folds, slanted eyes, flat facial profile, malformed ears, and big protruding tongue. Wide space between first and second toe Single palmar crease

secondary hyperparathyroidism

Due to a compensatory response from conditions that cause hypocalcemia Vitamin D Deficiency Malabsorption Chronic Renal Failure Patient will have elevated PTH levels and normal or low serum calcium levels

Primary hyperparathyroidism

Due to an increased secretion of PTH Most commonly due to tumors of the parathyroid gland Patient will have elevated PTH levels, elevated serum calcium levels, low phosphorus levels

what are the clinical manifestations of chronic kidney disease? *Immunosuppression*

Due to high Urea and metabolic waste levels Results in... Decrease granulocyte count Defective phagocyte function Impaired inflammatory response

how many chromosomes and chromosome pairs do cells have?

Each nucleus of a somatic cell contains 46 chromosomes arranged in 23 pairs

diploid cells

Each somatic cell nucleus has 46 chromosomes total Reproduce with mitosis

what are the clinical findings of chronic kidney disease? *Potassium*

Early in the disease, potassium levels are maintained Potassium is excreted in bowels Later in the disease process, potassium levels are elevated Due to oliguria can cause heart dysrythmias etc

what are the clinical manifestations of glomerularnephritis?

Edema and olyguria (first symptoms to occur) Periorbital, facial, abdominal and extremities Elevated Blood Pressure Irritability/ Lethargy/ Anorexia Dysuria Hematuria *Cola colored urine* RBCs and protein plugs or casts RBC casts indicate glomerular injury Proteinuria (Mild) Due to increased permeability of the glomerular membrane Possible elevated Creatinine/ BUN

what are the acquired causes of lower urinary tract obstruction?

Enlarged Prostate Gland in males Urethral Stricture Typically from STI's such as Gonorrhea Bladder tumors Relaxation of Pelvic support structures in females Cystocele (bladder herniates into vagina), Rectocele (where the rectum bulges into the bladder and impairs the urethral structures from allowing urine to be excreted (small = asymptomatic))

The adrenal medulla secretes which of the following hormones? Select all that apply a.Epinephrine b.Cortisol c.Norepinephrine d.Aldosterone

Epinephrine and Noreinephrine

what is the most common organism that causes pyelonephyritis?

Escherichia Coli is the most common organism Microorganisms ascend along ureters or via bloodstream

True or False... Creatinine Clearance is a measurement of the amount of Creatinine in the Blood?

False, creatinine clearance is a measure of how much creatinine our kidneys clear into the urine. This is measured with the 24 hour urine test, not a blood test.

A person with a lower urinary tract infection would have positive ketones, positive glucose and positive protein in the urinalysis result?

False, this is more likely to be a urinalysis of a patient with Diabetes Mellitus. A urinalysis of a patient with a urinary tract infection would be more likely to show positive white blood cells, positive nitrites, a pH that is more alkaline like 8.4 maybe, and possibly positive red blood cells.

turner sydrome

Females with only one X chromosome (XO) Monosomy Random error or from defect in mom's egg or dad's sperm Characteristics: •Underdeveloped ovaries (sterile) •Short stature (~ 4'7") •Webbing of the neck •Edema •Underdeveloped breasts; wide nipples

what are the clinical manifestations of pyelonephyritis?

Fever/ chills, shaking (rigors) Flank/groin pain Cloudy urine "Pyuria" (purulent pee) Symptoms of lower UTI which includes: Dysuria Frequency (need to pee often) Urgency (when you need to pee, you need to pee right away)

what are the clinical manaifestations of lower urinary tract obstructions?

Frequency Hesitancy Urgency Need to strain to initiate urination Weak urinary stream Feelings of incomplete bladder emptying Nocturia

what are the clinical manifestations of cystitis?

Frequency Urgency Dysuria Pain and burning when urinating Lower abdominal or back pain Hematuria Cloudy urine Elderly may have fewer symptoms, but may show confusion

what is the recovery phase of AKI?

GFR Increases (urine output increases) or it pateaus to a new normal range and they never fully recover BUN and Serum Creatinine normalize Some patients do not recover and progress to end-stage renal disease.

what are the risk factors for acute cystitis?

Gender: Females more than males Sexually Active and Post Menopausal Females (lower estrogen levels) Pregnant Women (more hormone changes and they cant see their thangs) Urinary Stasis Obstruction Neurogenic Bladder Disorders Infrequent voiding (Nurses...) Elderly Less Mucin (bladder protectant) in the bladder, immobile etc... Diabetes Mellitus (increases glucose means more infection) Catheterizations Infants/Toddlers

what are neurogenic bladder disorders?

General term for bladder dysfunction caused by a neurologic disorder CVA, TBI, spinal cord injury... Disruption of nerve control of bladder function can occur at any level Brain, spinal cord, peripheral nerves

autosomal recessive disorders

In order for person to have the disease, two copies of the abnormal recessive gene must be present in the offspring The dominant gene can suppress the phenotypic expression of the recessive gene Effects any of the chromosomes, except for X or Y Example: Cystic Fibrosis If only one gene exists, the person won't have the disease, but will be a "carrier" of the disease Carries the diseased gene but does not demonstrate signs or symptoms of the disease

hypoparathyroidism

Inadequate PTH secretion Uncommon condition Characterized by hypocalcemia May be caused from removal of the parathyroid gland or damage to the blood supply to the gland during neck surgery...

what is nephrotic syndrome ? (glomerular disorder)

Increased permeability of the glomerulus -proeteins etc.. can get through the glomerulus (bad)

what is nephrotic syndrome more detailed?

Increased permeability of the glomerulus Allows a lot of protein to leave the blood vessel Results in Hypoalbuminemia Remember that protein holds on to fluid in the vascular space, so if the patient is losing protein, fluids will escape Leads to edema...

reduced penetrance

Individual has the mutated gene for a disease but does not express the disease Example: Many people with a mutation in the BRCA 1 & 2 gene will develop breast cancer during their lifetime, but some people will not

klinefelter syndrome

Individuals with at least two Xs and one Y chromosome Rare... there may be more than 2 x's (xxxy) - abnormalities increase with each X Characteristics: ´Male appearance ´Develop female-like breasts ´Small testes ´Sparse body hair ´Long limbs

what is glomerulonephritis and what are the causes?

Inflammation of the glomerulus May be acute or chronic Many causes: Infectious Process (beta hemolytic strep) most common inflammation increases the capillary permeability and so big stuff gets through (damage) Drugs or toxins Systemic diseases

frameshift mutation

Insertion or deletion of one or more base pairs of the DNA molecule Causes a change in the entire "reading frame" or sequence of DNA

what is an upper urinary tract obstruction?

Interference with the flow of urine at any site along the urinary tract may be: Partial or complete or Unilateral or bilateral

what are the clinical findings of chronic kidney disease? *Fluid and Electrolyte imbalance*

Kidneys lose it's ability to regulate sodium and water Early in the disease process, the patient loses sodium and water Later in the disease process, sodium and water are retained, causing hypervolemia and HTN May lead to Pulmonary Edema...

If serum calcium level is low, _____ will be secreted. a.Calcitonin b.PTH

PTH

what are the clinical manifestations of chronic kidney disease? *Calcium, phosphate, bone involvement*

Kidneys normally regulates serum phosphate levels through daily excretion in urine Poor renal function leads to hyperphosphatemia Phosphate and Calcium are inversely regulated, thus results in Hypocalcemia Hypocalcemia leads to PTH release Increased PTH results in increased serum Calcium levels At the expense of the bones Results in reduction in bone mass, bone pain and skeletal fractures also less vitamin D which leads to a decrease in the absorption of calcium

Acute Adrenocortical Insufficiency: "Addisonian Crisis"

Life threatening emergency triggered by: Physiologic or Psychologic stress Sudden withdrawal of corticosteroid medications Sudden pituitary gland destruction Following Adrenal Surgery

functions of aldosterone

Maintain body fluid balance Aldosterone causes sodium and water retention and potassium excretion at the renal tubules An increase in aldosterone will cause: Increased BP Hypokalemia Hypernatremia

what are the clinical manifestations of chronic kidney disease? *cardiovascular*

Major cause of death in CKD Multiple factors related to CKD contribute to Cardiovascular concerns.. electrolyte imbalances (potassium) fluid overload Anemia

consanguineous mating

Mating of two related individuals Parents have a common ancestor Dramatically increases the recurrence risk of recessive disorders

what neurogenic bladder disorder: overactivity?

May be called "Detrusor Hyperreflexia" Results in bladder spasms Detrusor contractions occur suddenly, without warning incontinence

what is neurogenic bladder disorder: Hypotonic or Atonic bladder?

May be called... "Detrusor Hyporeflexia" "Detrusor Areflexia" Flaccid, often with loss of bladder sensation Bladder fills but does not contract

what are the clinical findings of chronic kidney disease? *Acid-base balance*

Metabolic acidosis develops Due to decreased hydrogen ion elimination and decreased bicarbonate production***

how does PTH increase serum calcium levels?

Mobilizing Calcium from the Bone Promoting Calcium reabsorption from the intestine and renal tubules

facts about glomerulonephritis in children

Most commonly after a streptococci infection Throat or skin Antigen-antibody complexes and complement are deposited in the glomerulus Called "Acute Poststreptococcal Glomerulonephritis" APSGN Typically occurs 1-2 weeks following strep throat The child experience a sudden onset of hematuria, edema, hypertension, and renal insufficiency Runs it's course in about 1 month 95% recover completely while with adults they recover a lot more slowly and with some it can progress to chronic kidney disease

silent mutations

Mutations in DNA that do not have an observable effect on the organism's phenotype

what are the clinical findings of chronic kidney disease? *Gastrointestinal*

N/V & Anorexia Uremic breath (metallic taste and decreased appetite)

functions of cortisol

Necessary in times of stress/illness/trauma... Regulates of blood glucose concentration Increases blood glucose through facilitation of hepatic gluconeogenesis Decreases peripheral glucose use in the fasting state Increases breakdown of proteins and lipids to be utilized as energy source Anti-inflammatory Action Prevents increased capillary permeability Inhibits production of prostaglandins and leukotrienes

induced mutations

Occurs because of exogenous or environmental agents Mutagen- an agent known to increase the frequency of mutations

spontaneous mutations

Occurs in absence of exposure to known mutagen

what are the three phases of AKI?

Oliguric Diuretic Recovery

basepair substitution

One base pair is substituted for another, changes the code for the protein produced

what can pyelonephyritis result in?

Results in infiltration of WBC's in the renal medulla, renal inflammation and purulent urine Fibrosis and atrophy may remain after the acute phase

what is a lower urinary tract obstruction?

Results in obstruction of urine leaving the bladder Urine is formed normally in the kidneys, but retained by the bladder

what does calcitonin do?

Secreted from the thyroid gland Inhibits calcium reabsorption from bone Increases calcium storage in bone Increases renal excretion of calcium

parathyroid gland and hormones

Secretes Parathyroid Hormone (PTH) PTH regulates calcium in the blood (Antagonist to Calcitonin) Decrease in Serum Calcium stimulates the release of PTH PTH increases serum calcium levels

adrenal medulla

Secretes epinephrine & norepinephrine Secretion of hormones is stimulated by stress

cushing's syndrome

Spectrum of clinical manifestations caused by excess corticosteroids (particularly glucocorticoids) Causes of Cushing Syndrome: Prolonged administration of corticosteroids Pituitary Tumor Adrenal Tumor Carcinoma of the lung (causes excess secretion of ACTH)

genotype

The entire genetic constitution of an individual Determined by the particular combination and location of the genes on the chromosomes An individual's genetic makeup

things you need to remember about the glomerulus

The main filter of the nephron, located within the Bowman's capsule. Resembles a twisted mass of tiny tubes through which the blood passes. Semipermeable, allowing water and soluble wastes to pass through and be excreted out of the Bowman's capsule as urine.

expressivity

The manner in which the gene is expressed in the phenotype Ranges in severity from mild to severe

recurrence risk

The probability that parents of a child with a genetic disease will have another child with the same disease

down syndrome (trisomy 21)

Three chromosomes on autosome 21 Best known example of aneuploidy (1:800 live births) Risk increases with increased maternal age (>30) Very few cases are inherited, the majority of cases occur through a random error of non-disjunction

what parts of the kidney does pyelonephyritis usually affect?

Typically affects the renal pelvis, calyces, medulla Rarely effects the glomerulus

what is pyelonephyritis?

Upper urinary tract infection May include ureters, renal pelvis... Unilateral or bilateral

what can a lower urinary tract obstruction lead to?

Urinary Stasis Leading to infection Backflow of urine into the ureters Hydroureters Hydronephrosis Damage to the Kidneys

what are the common underlying risk factors for pyelonephyritis?

Urinary obstruction leading to urine stasis (good place for bacteria to grow) Ascending infection which stems from Cystitis (UTI) Urine reflux Kidney stones (obstruct ureters causing stasis) Pregnancy (fetus obstructs/compresses parts of bladder) Neurogenic bladder (parasympathetic NS very important to let voluntary sphincter relax)

facts about kidney failure

Will occur with complete bilateral obstruction Results in oliguria (less than 400-500ml per day) and anuria (no urine output) Renal Failure is not likely with unilateral obstruction the healthy kidney will maintain adequate function change in urine output is a very important indicator to look out for. (want patient to have at least 30ml/ hr) check for labs as well: elevated BUN? creatinine? Also take a bladder scan to see if there's retention

Females are at greater risk for acquiring a UTI, Why?

Women have a shorter urethra Urethra is closer to the anus Male prostate secretion deceases the risk of infection

trisomy X

a female that has three X chromosomes Symptoms are variable: sterility, menstrual irregularity, and/or developmental delay Symptoms worsen with each additional X

Chronic Kidney Disease (CKD) may include the following manifestations and/or lab results (Select all that apply): A. Elevated BUN & Creatinine B. Low BUN & Creatinine C. Elevated Potassium D. Low Potassium E. Fluid Volume Deficit F. Fluid Volume Excess G. Decreased pH (acidosis) H. Increased pH (alkalosis)

a, c, f, and g

what is the severity of a urinary tract obstruction based on?

a.Degree Location Unilateral or Bilateral Typically Unilateral Completeness of the blockage b. Duration of the blockage (how long blockage lasted and how much urine was backed up)

Clinical manifestations seen with Cushing Syndrome include... (Select all that apply) a.Hypernatremia b.Metabolic alkalosis c.Hypokalemia d.Thin trunk and extremities e.Hypoglycemia f.Turtle back

a.Hypernatremia b.Metabolic alkalosis c.Hypokalemia

euploid

any organism having a chromosome number that is an exact multiple of the haploid number of chromosomes. This is normal and expected.

fragile sites

areas on chromosomes that develop distinctive breaks or gaps example: fragile X syndrome

The nurse is caring for a patient with an elevated T3 and T4. What symptoms would the nurse expect to see? Select all that apply a.Weight gain b.Tachycardia c.Goiter d.Exophthalmos e.Excess perspiration f.Feeling warm

b.Tachycardia c.Goiter d.Exophthalmos e.Excess perspiration f.Feeling warm

Cushing Syndrome is best described as a dysfunction in which ... a.the person has a deficit in circulating corticosteroids (glucocorticoids and mineralocorticoids) b.the person has excess corticosteroids (glucocorticoid and mineralocorticoid) c.the person has excess mineralocorticoids only d.The person has excess glucocorticoids only e.The person has a deficit in glucocorticoids

b.the person has excess corticosteroids (glucocorticoid and mineralocorticoid)

what is karotype and what 3 things does karotype tell you?

picture of all the chromosomes of an individual 1.Species - if 23 = human 2.Gender of the individual 3.If the person has a chromosomal abnormality

polysomy or polyploidy

presence of more than 2 chromosome pairs. It is the state of a cell or organism having more than two paired (homologous) sets of chromosomes Triploidy: a zygote having three copies of each chromosome Tetraploidy: A zygote having four copies of each chromosome Neither triploid nor tetraploid fetuses survive

adrenal cortex

produces corticosteroids (glucocorticoids and mineralocorticoids)

ploidy

refers to the number of sets of chromosomes in an organisms genetic makeup

What is vesicoureteral reflux?

retrograde projection of urine from bladder to the ureters and kidneys the ureter inserts itself at a steep angle into the bladder that helps make sort of a flap-like structure that closes and prevents urine from backing up back into the ureter. However, if there is a substantial increase in pressure this flap could be pushed open allowing for urine to reflux

examples of autosomal recessive traits

sickle Cell Anemia, Cystic fibrosis, Thalassemia

gametes

sperm and egg