Exam (elaborations) RNSG2201 Endocrine & Metabolic Dysfunction Pediatrics Exam

Phenylketonuria • Can’t metabolize amino acids (protein) b/c missing the phenylalanine conversion enzyme  accumulation of phenylalanine in bloodstream o Phenotype  blond hair, blue eyes, fair skin ( melanin) o If not treated, CNS damage will lead to cognitive impairment • S/s o FTT, frequent vomiting, irritability, hyperactivity, unpredictable (sometimes bizarre) behavior • Dx o Important  newborn screening test mandatory (2 tests) – blood drawn from heel  Wait at least 24 hr after ingestion of 1st protein  1st test done w/in 7 days of birth, 2nd test done w/in 2 wks. of birth • Tx o Low protein diet – 20-30 mg/kg/day of phenylalanine o Breastfeeding IS allowed b/c breast milk has low levels of phenylalanine  If not breastfed, on special low-protein formula o Diet continues throughout life – often especially troublesome to adolescents Galactosemia • Rare recessive disorder where missing hepatic enzyme prevents digestion of galactose • S/s o Hepatic dysfunction  cirrhosis  jaundice in infant by 2nd week after birth o Splenomegaly  spleen becomes enlarged d/t portal HTN o Cataracts, cerebral damage, vomiting, diarrhea, weight loss • Dx o Newborn screening • Tx o Eliminate all milk & lactose-containing formula – no breast milk either  Some fruits also high in galactose o Soy protein formula = feeding of choice o Monitor glucose Hypothyroidism • Hashimoto disease or juvenile autoimmune thyroiditis = most common causes • S/s o Growth cessation / retardation in a child whose growth has previously been normal,  metabolic rate (all functions affected), weight gain, dry skin, puffiness around eyes, sparse hair, constipation, sleepiness, lethargy, mental decline • Dx o Family Hx, Hx of child’s growth patterns & previous health status, physical exam, psychosocial eval, radiographic surveys o Endocrine studies (T3, T4, high TSH) o Can be congenital – newborn screening done • Tx o Synthroid (lifelong) Hyperthyroidism • No cure; mostly see in adolescent girls o Grave’s disease = most common cause • S/s o Opposite of hypothyroidism o Irritability, hyperactivity, tremors, insomnia, emotional lability, weight loss (despite good appetite), accelerated linear growth & bone age, muscle weakness, GI tract acceleration (vomiting, frequent stool), dyspnea, diaphoresis, hair fine, exophthalmos • Tx o Meds  SSKI o Surgery  thyroidectomy, or radioiodine ablation therapy  Post-op  laryngospasm can be life-threatening (stridor, hoarseness, feeling of tightness in throat) • Have trach near bed for emergency care • Position neck slightly flexed to avoid strain on sutures • Watch for hypocalcemia (if parathyroid glands affected by surgery) Precocious Puberty • Early sexual maturation (before 9 y/o in boys or 8 y/o in girls) o These children are fertile – parent teaching – dress at age-appropriate developmental level – should still be treated (& dressed) as children • Tx o Leuprolide acetate (Lupron)  Monthly shot or implantable device   LH & FSH levels  S/E – sometimes stunts growth • Mgmt. o Psychologic, provide information, MRI of brain & monitor growth Congenital Adrenal Hyperplasia • Excessive androgens cause masculinization of genitalia at 10th wks. of fetal development – especially pronounced in females, who’re born w/ ambiguous genitalia o Will do US/chromosomal testing • S/s o  pigmentation of skin, adrenal insufficiency, loses salt (salt-wasting crisis), FTT o Hyponatremia & hyperkalemia; cardiac arrest may occur • Tx o Cortisone & sometimes aldosterone replacement o Assignment of sex according to genotype o Possibly, reconstructive surgery • Mgmt. o Teaching  why it happened, choosing a name, avoiding questions from family, what to expect from surgery, watch for s/s of dehydration, refer for genetic counseling Diabetes Mellitus (DM) • Type I o Pancreas not working; absolute insulin deficiency  These children need insulin  Mgmt. focuses on insulin replacement, diet, & exercise • Type II o Usually d/t insulin resistance; body fails to use insulin properly, w/ relative (rather than absolute) insulin deficiency  Results in hyperglycemia & acidosis, which produce weight loss & the 3 “P’s” of DM—polyphagia, polydipsia, & polyuria • Evaluate for DM if: o (1) Glycosuria, polyuria, & Hx of weight loss / failure to gain weight despite voracious appetite (polyphagia) o (2) Transient / persistent glycosuria o (3) Manifestations of metabolic acidosis, w/ or w/o stupor or coma • Mgmt. o Teaching  Child to check own BS & watch for s/s of hypo- or hyperglycemia  How to administer own insulin / take oral DM meds & importance of timing  Body requires more insulin when stressed  illness, actual stress, etc.  Explanation of DM, meal planning, monitoring general hygienic practices, promoting exercise, record keeping, & observing for complications • Complications o DKA  the most complete state of insulin deficiency – life-threatening, more common DM1 o Mgmt.  Rapid assessment, adequate insulin to  elevated BG levels, fluids to overcome dehydration, & electrolyte replacement (especially potassium), diet & exercise Diabetes Insipidus • The principal disorder of posterior pituitary hypofunction resulting from under secretion of antidiuretic hormone (ADH), also known as vasopressin