Exam 5: Lpc Ch. 34

Front 1

Describe the etiology of Phenylketonuria/PKU.

Back 1

•Congenital autosomal recessive disease

•Liver: deficient amount of enzyme that breaks down phenylalanine—>tyrosine

•Low tyrosine=melanin deficiency (patients with PKU are usually fair skinned with blond hair)

Front 2

How is phenylketonuria diagnosed/assessed for?

Back 2

Inborn errors of metabolism are assessed with newborn blood screening panels (elevated serum phenylalanine levels).

*Should be taken after first 24 hours of feedings in the immediate postpartum period.

Front 3

How does PKU manifest in patients?

Back 3

•Musty-smelling urine/body odor

•Poor weight gain & delayed growth

•Low melanin=skin prone to eczema and photosensitivity

•Elevated phenylalanine=brain damage; intellectual disability, behavioral problems, seizures, psychiatric disorders

Front 4

What are interventions for PKU?

Back 4

•Diet: eliminate phenyl ketones (high-protein foods)

-Avoid milk, eggs, meat, fish, beans, nuts, eggs, flour, cheese, foods with phenylalanine-type sugars

-Infant formula: if used as milk substitute, must have enzymatic hydrolysate of casein

•Treat seizures with anticonvulsants

•Children with PKU need long-term care and compliance with diet; provide education and emotional support.

Front 5

Describe the pituitary gland and some of the hormones it secretes/releases.

Back 5

•Anterior lobe is ”master gland”: controls release of other hormones from glands throughout body

Secretes:

-Somatropin: growth hormone; regulates bone and soft tissue growth and blood glucose.

-Thyroid-stimulating hormone/TSH: Stimulates thyroid to to create+release thyroxine.

-Antidiuretic hormone: kidneys reabsorb water and sodium to retain fluids.

-Adrenocorticotropic hormone: Adrenal cortex converts cholesterol—>adrenal steroids.

-Other hormones (r/t puberty): Follicle-stimulating hormone, luteinizing hormone, gonadotropin

-Other hormones (r/t pregnancy): Prolactin and oxytocin

Front 6

Describe the thyroid and the hormones it secretes.

Back 6

•Regulates BMR by influencing body heat, appetite, heart rate & cardiac output, and use of O2 and CO2

•Its hormones regulate blood calcium concentrations and processing of protein/fat/carb catabolism(breakdown).

• Secretes: T3, T4, and calcitonin.

Front 7

Describe the parathyroid and the hormones it secretes.

Back 7

•Regulates/maintain calcium levels; also influences phosphate/potassium/magnesium levels

•Secretes parathyroid hormone; if high PTH—>hyperparathyroidism and hypocalcemia

Front 8

Describe the parathyroid and the hormones it secretes.

Back 8

•Regulates/maintain calcium levels; also influences phosphate/potassium/magnesium levels

•Secretes parathyroid hormone; if high PTH—>hyperparathyroidism and hypocalcemia

Front 9

Describe the adrenal glands and the hormones they secrete.

Back 9

•Produce and secrete aldosterone; progesterone, estrogen, and androgens (testosterone) for sexual maturation; and Epinephrine (adrenalin) and norepinephrine for a child’s stress response

Front 10

Describe the adrenal glands and the hormones they secrete.

Back 10

•Produce and secrete:

aldosterone;

progesterone, estrogen, and androgens (testosterone) for sexual maturation;

Epinephrine (adrenalin) and norepinephrine for a child’s stress response;

and glucocorticoids like cortisol and corticosteroid

Front 11

Describe the pancreas and the hormones it secretes.

Back 11

•Beta cells secrete insulin to lower blood glucose.

•Alpha cells secrete glucagon to raise blood glucose.

Front 12

Describe the ovaries and testes and the hormones they secrete.

Back 12

•Responsible for sexual reproduction by secreting estrogen and progesterone (ovaries) and testosterone (testes).

•Estrogen: Stimulates RNA and protein synthesis, pubic/axillary hair growth, breast development, pelvic enlargement, epiphyseal closure.

•Progesterone: prepares uterus for fertilized ovum

•Testosterone: spermatozoa production, muscle development, body hair growth, and external genitalia enlargement.

Front 13

Describe the etiology of congenital juvenile hypothyroidism.

Back 13

•Caused by a spontaneous gene mutation; insufficient thyroid hormone or pituitary defect

•2x common in girls

•Will progress to cognitive impairment if not identified and treated early; mental retardation reversible with quick tx

Front 14

How is congenital juvenile hypothyroidism diagnosed/assessed for?

Back 14

•State mandated neonatal T4 screenings ideally taken 2-6 days of life (earlier may show false high TSH level)

•T4 level: <3 mcg/100 ml and TSH level: >40 mcg/100 ml indicate hypothyroidism.

Front 15

How does congenital hypothyroidism manifest in patients?

Back 15

•Assess for skin mottling, large fontanel+tongue, slow reflexes, prolonged jaundice, umbilical hernia, constipation, hoarse cry.

•Also look for heart/GU defects or cleft palate.

Front 16

What are interventions for hypothyroidism?

Back 16

•Follow the child’s T3 and T4 levels and administer hormone replacements.

•Have a source of Vitamin D for tx.

•Long term growth and devt. assessments, including energy level and schoolwork

Front 17

What are some nursing considerations for hypothyroidism?

Back 17

•Medication compliance for life is essential; regular checkups and blood level checks important.

•Avoid soy with hormones and administer 30-60 min before breakfast with full glass of water

•Teach s/s of hypo- and hyperthyroidism:

-Hypo: coarse, dull hair; dry, thick skin; goiter; fatigue; cold intolerance

-Hyper: Goiter, nervousness/irritability/anxiety, smooth velvety skin, exophthalmus, poor attention span, heat intolerance, inc. appetite, wt. loss, diarrhea

Front 18

Describe the clinical manifestations of precocious puberty.

Back 18

•Premature release of gonadotropin from pituitary gland=early onset of puberty (boys <9 y/o; girls <7-8 y/o)

•90% idiopathic but can result from CNS tumors, head trauma, cranial radiation, ovarian malignancy, or contact exposure to testosterone.

Front 19

Describe the therapeutic management of precocious puberty.

Back 19

•Treat underlying cause; administer GnRH antagonist (Leuprolide) monthly IM/IV until physical age=chronological age

•Treat child according to chronological age.

•Recognize increased bullying and abuse risk.

Front 20

Describe the clinical manifestations of a growth hormone deficiency.

Back 20

•Pituitary dwarfism: Growth with normal body proportions but shorter overall stature; demonstrates a growth pattern of less than 2 inches annually until preschool; height <5th percentile

•Mental age and cognitive processing as expected; delayed but normal development of puberty.

•Child may be grumpy from hypoglycemia.

•Assess for dental anomalies from dental growth retardation

Front 21

Describe the therapeutic management of growth hormone deficiency.

Back 21

•Dx: Ultrasound and CT to check for tumors; bone age analysis from x-ray of wrist and hands; blood serum level of growth hormones checked

•Tx: Daily SQ human growth hormone injections until child is at acceptable height, but some children may not respond to tx; earlier intervention=greater chance of response

•Administer injections in evening for inc. effectiveness (inc. growth while asleep).

•Psychosocial: Provide emotional support to family and child to embrace size; inform family of support groups

Front 22

Describe the clinical manifestations of pituitary hyperfunction/anterior pituitary hormone hypersecretion.

Back 22

•Usually from benign pituitary tumor/adenoma; excessive secretion of anterior pituitary hormone resulting in gigantism in children (large overall size) or acromegaly in adults (bone and soft tissue overgrowth).

•Acromegaly: large hands & feet, mild-crippling joint pain, large tongue, deepening voice, vision changes, sleep apnea, mild-moderate obesity

•Acromegaly is associated with increased risk of cerebrovascular/respiratory/cardiovascular disease; increased risk of aortic aneurysms r/t CV system unable to keep up with growth

Front 23

Describe the therapeutic management of pituitary hyperfunction/anterior pituitary hormone hypersecretion.

Back 23

•MRI to assess pituitary gland for adenomas and x-rays to assess extent of skeletal deformation

•Tx: hypophysectomy (removal of pituitary gland); drug treatments; radiation therapy

•Watch for headaches, diuresis, and ambulation tolerance after hypophysectomy.

•Provide emotional support, especially as child enters preteen/teenage years.