Chapter 48: Nursing Care of a Family when a Child has an Endocrine or a Metabolic Disorder

A young couple seeks pregnancy counseling in the women's health clinic. They tell the nurse performing a focused health history that they are of Jewish descent and are worried about conceiving a baby with Tay-Sachs disease. No known metabolic disorders exist in the family medical history. What is the nurse's best response to this couple's concerns?

*"Carrier testing is warranted for couples who have an elevated risk for Tay-Sachs disease due to their ethnic origin."* Prevention, when it is possible, is the first intervention for metabolic disorders, such as Tay-Sachs. For some diseases such as Tay-Sachs disease, mild hyperphenylalaninemia, and Gaucher disease, carrier testing (heterozygote screening) is possible. Carrier testing is warranted for people who may have elevated risk because of their ethnic or national origin. The nurse has an important role in providing genetic counseling to families who are suspected or known carriers of a metabolic disorder.

A 3-day-old male infant is newly diagnosed with Tay-Sachs disease. The nurse reviews information about the disease process with the parents after the doctor has met with the family. Which statement by the parents demonstrates that the nurse has reviewed the disease process with the parents effectively?

*"He will have normal development for about 6 months before developmental delays develop."* Tay-Sachs disease is an autosomal recessively inherited disorder in which the infant lacks hexosaminidase A (an enzyme for lipid metabolism). Therefore, lipid deposits on nerves in the brain and in ocular areas cause cognitive delays and blindness. This is progressive, and the life expectancy is 3 to 5 years. This condition is seen most often in the Ashekenazi Jewish population (central and Eastern European descent). No diet, exercise, or cure is known.

A nurse is preparing a presentation for a group of parents with children diagnosed with type 1 diabetes. The children are all adolescents. What issues would the nurse address related to their developmental level? Select all that apply.

*Body image conflicts, deficient decision-making skills, struggle for independence* Adolescents are undergoing rapid physical, emotional, and cognitive growth. Working toward a separate identity from parents and the demands of diabetic care can hinder this. This struggle for independence can lead to nonadherence of the diabetic care regimen. Conflicts develop with self-management, body image, and peer group acceptance. Teens may acquire the skills to perform tasks related to diabetic care but may lack decision-making skills needed to adjust treatment plan. Teens do not always foresee the consequences of their activities. Self-monitoring of blood glucose levels and feelings of being different are issues common to school-age children

The nurse reviews a 6-year-old client's laboratory results and notes the client's hemoglobin A1C level is 7.7% (0.077). Which action by the nurse is appropriate?

*Continue to monitor.* The nurse would continue to monitor the client as this level is within range for this client's age. Hemoglobin A1C provides information regarding the long-term control of glucose levels. This age client should have an A1C less than 8% (0.08). There is no indication the nurse needs to assess the client's current glucose level. The nurse does not administer insulin based on A1C levels. The health care provider does not need to be notified for a normal level.

A 15-year-old girl is brought to the clinic by her mother because the girl has been experiencing irregular and sporadic menstrual periods and excessive body hair growth. Polycystic ovary syndrome is suspected. Which additional assessment finding would help to support this suspicion?

*Darkened pigmentation around the neck area* Acanthosis nigricans (darkened, thickened pigmentation, particularly around the neck or in the axillary region) is associated with polycystic ovary syndrome. Serum levels of free testosterone typically are elevated with polycystic ovary syndrome. With polycystic ovary syndrome, body mass index indicates overweight or obesity. Short stature typically is associated with growth hormone deficiency.

The nurse is preparing a teaching plan for a 10-year-old girl with hyperthyroidism. What information would the nurse include in the plan?

*Explaining about the radioactive iodine procedure* Explaining about the radioactive iodine procedure would be part of the teaching plan for a child with hyperthyroidism because this is a less invasive type of therapy for the disorder. Describing surgery to remove an anterior pituitary tumor would be included for a child with hyperpituitarism. Teaching a parent to give injections of growth hormone would be appropriate for a child with a growth hormone deficiency. Showing parents how to give DDAVP intranasally is appropriate for a child with diabetes insipidus.

The child was recently diagnosed with type 1 diabetes. The nurse is preparing to teach the child and their parents about the insulin therapy the health care provider has prescribed. What should the nurse ensure is included in this training?

*It is normal for the growing child to require an increase in insulin; this does not mean their condition is getting worse.* Children show a decreased need for insulin shortly after glucose control has been established, which is referred to by some as the "honeymoon phase" and should be described to parents so that they do not get any false hope that the child does not need insulin. As children grow, they will require increased doses of insulin to maintain glucose control, and not all children need to receive two types of insulin. Insulin treatment should be based on each individual child.

A child is receiving desmopressin (DDAVP) for the treatment of central diabetes insipidus. The child sneezes immediately after receiving the morning dose. Which is the best action made by the nurse?

*Repeat the full dose immediately.* If a dose of desmopressin (DDAVP) is sneezed out of the child's nose immediately after giving the medication, the full dose may be repeated immediately.

The nurse is working in the labor and delivery area with a laboring parent who is a genetic carrier for galactosemia. Following birth, which change in the plan of care occurs until it is confirmed that the neonate does not have galactosemia?

*The neonate will be given a soy-based formula.* Galactosemia is a rare autosomal recessive disorder that is an inborn error of carbohydrate metabolism. The enzyme galactose-1-phosphate uridyltransferase is missing, and this prevents galactose from being changed to glucose. Galactose builds up in the bloodstream, possibly causing cataracts, liver failure, and renal tube problems. Treatment consists of removing all lactose-containing foods, including breast milk. Soy protein is the preferred formula diet. Skin-to-skin contact is encouraged after birth. Glucose water may or may not be offered. Phototherapy is only initiated if and when it is needed.

A child with a history of diabetes insipidus is admitted with polyuria, polydipsia, and mental confusion. Which is the priority intervention for this child?

*check VS* Central diabetes insipidus is a disorder of the posterior pituitary. The fluid status of the child can be assessed first by assessing the vital signs. The large amounts of fluid loss can cause fluid and electrolyte imbalance that should be corrected. Urine output is important but not the priority. Encouraging fluids will not correct the problem, and weighing the client is not necessary at this time. Diabetes insipidus is managed by decreasing the protein and sodium in the diet and daily replacement of the antidiuretic hormone.

The nurse is interpreting the negative feedback system that controls endocrine function. What secretion will the nurse correlate as decreasing while blood glucose levels decrease?

*insulin* Feedback is seen in endocrine systems that regulate concentrations of blood components such as glucose. Glucose from the ingested lactose or sucrose is absorbed in the intestine and the level of glucose in blood rises. Elevation of blood glucose concentration stimulates endocrine cells in the pancreas to release insulin. Insulin has the major effect of facilitating entry of glucose into many cells of the body; as a result, blood glucose levels fall. When the level of blood glucose falls sufficiently, the stimulus for insulin release disappears and insulin is no longer secreted. Glycogen is stored in the liver and muscles. It is released to provide energy when the blood glucose levels fall. Glucagon is also produced by the pancreas. Its job is to force the liver to release stored insulin when the body has a need for more insulin. The adrenocorticotropic hormone is produced by the anterior pituitary. Its function is to regulate cortisol. This is needed so the adrenal glands can function properly. It also helps the body respond to stress.

A child who has type 1 diabetes mellitus is brought to the emergency department and diagnosed with diabetic ketoacidosis. What treatment would the nurse expect to administer?

*regular insulin* Insulin for diabetic ketoacidosis is given intravenously. Only regular insulin can be administered by this route.