Endocrine And Metabolic Disorders Flashcards
Inborn errors of metabolism
Class of genetic disease involving numerous dx of met primarily due to genes that affect enzyme activity causing build up of toxins that interfere with normal metabolic fxn (CHO met, AA met, organic acid met, lysosomal storage disease)
Why is early screening for metabolic disorder important?
Risk for cog and developmental delays
Phenylketonuria (PKU)
- inborn genetic error
- absence of phenylalanine hydroxylase enzyme
- can’t b/d phenylalanine (Phe) so can’t b/d and use protein so they build up in body and cause brain damage
- autosomal recessive
- males and females equal
What happens when people with PKU ingest protein?
They can’t b/d protein into tyrosine so it creates abnormal metabolites that cause phenylpyruvic acid in the urine
Sx of PKU
Brain damage, sluggish, lack appetite, rashes, diarrhea
Normal phenylalanine Level vs PKU level
- usually 1
- PKU 60-80, usually about 30
PKU management
- diet low in PA
- breast-feed or PA free formula
- restrict PA in diet for life; only very limited amt of meat, limit fruits and veg, limit grains and starch
- use milk substitute
- on PA-free formula for life—gives protein
PKU Dietary goals
- meet nut needs for optimum growth
- maintain PA levels w/i 2-6
CM untreated PKU in kids
- restricted ht/wt
- musty odor to urine and sweat
- hypopigmentation (fair skin, blue eyes, blond hair, eczema)
- vom
- irritable
- seizure
- hyperactive
- mental retardation
Adults with untreated PKU
- short attn span
- poor short term memory
- visual perception probs
- poor motor coordination
- mood disorders
- brain structure Chx (Dec gray brain matter)
NC for PKU
- proper testing
- teaching
- referral for genetic counseling
- supportive
- flexible feeding schedule
- encourage early tx
- G/D fine if they adhere to diet
Galactosemia
- lack enzyme to convert galactose (in milk) to glucose
- auto recessive
Galactosemia CM
Vom, wt loss, jaundice (hepatomegaly), lethargy, hypotonia, cataracts (galactalose accum)
Long-term consequences of galactosemia
Learning disabilities, lower IQ, short attn span, behavior probs
Galactosemia Therapeutic management
- lactose free diet like soy
- no breast feed UNLESS mom is completely dairy free
- calcium supps
- mediations cautions—can be sensitive to vitamins and penicillin (sometimes they have galactose)
Dx of thyroid fxn
Main action of thyroid is regulation of basal metabolic rate
- hypo or hyper thyroid
- may be disturbance in secretion of TSH
Congenital Juvenile hypothyroidism
Hypoplastic thyroid gland
- auto recessive
- major cause of childhood cog delays
Acquired juvenile hypothyroidism
- can follow radiation for Hodgkin or other cancer
- can follow partial or complete thyroidectomy for CA or thyrotoxicosis
- rarely occurs from dietary insufficiency in US
S/S Hypothyroidism
- hypothermia
- large, protruding tongue
- short, thick neck
- delayed dentition
- hypotonia
- poor feeding
- prolonged jaundice
- constipation
- missed or delayed diagnosis may lead to mental defects
Congenital goiter
Hypertrophy of the thyroid gland from maternal ingestion of antithyroid drugs during pregnancy
Acquired goiter
Hypertrophy of the thyroid gland resulting from neoplasm, inflammation disease, dietary deficiency (rarely in kids), or inc secretion of pit thyrotropic hormone
Goiter NC
- thyroid enlargement at birth could compromise airway
- may become noticeable during periods of rapid growth
- large goiters may be obvious; smaller nodules evident only on palpitation
Goiter/hypothyroidism tx
- oral hormone replacement therapy (Levothyroxine)
- promptly needed for brain growth in infancy
- may admin inc amt over 4-8 weeks to reach euthyroidism
- compliance with med regimen is CRUCIAL
Goiter s/s
Hypothyroidism
- indicates they are not following their med regimen
Hypothyroidism NC
- early recog
- encourage compliance and periodic monitoring
- teach med admin (avoid heat exposure and don’t mix with soy-based formula bc it can bind, can crush)
Hyperthyroidism (Graves disease)
Excessive secretion of thyroid hormone (more T3 and more T4 but TSH is suppressed)
- autoimmune response to TSH receptors
- runs in fam
- most common 12-14Y female
- mimics s/s adults
Therapeutic management of hyperthyroidism
- diagnosis based on T3, T4, TSH levels
- antithyroid drugs like Propylthiouracil (PTU) and methimazole (MTZ, Tapazole)—can achieve 1-2Y remission and takes 1-2W to kick in
- subtotal thyroidectomy (rare bc risky with neck)
- ablation with radioiodine (results in hypothyroidism and need HRT)
Toxic rxn called agranulocytosis
Toxic reaction to anti thyroid meds (hyperT) drugs, esp PTU
- medical emergency
- happens in first weeks or months
- sore throat and fever
- stop med and isolate—send to HCP
- prob need abx and steroids
Hyperthyroidism NC
- identify s/s
- limit activity and demands placed on kid (low stress)
- counsel fam and teachers
- high cal, nutritious diet
- meds—side effects
Thyrotoxicosis
Thyroid crisis or storm
- T3/4 very high and TSH very low
- may occur from sudden release of hor
- rare in kids but life-threatening
- may be precipitated by infix, surg, discont of antithyroid therapy—body in extra stress
- tx: antithyroid drugs and propranolol (Dec bodily demands), IVF, steroids
- s/s high fever, shock, diarrhea
Pituitary gland
- master gland
- regulated other glands
- Anterior pit—TSH (thyroid-stim), GH, LH (luteinzing), FSH (follicle-stim)
- Posterior—vasopressin, oxybutanine (water output thru kidneys)
Hypopituitarism (Growth hormone deficiency)
- inhibition of somatic growth in all cells—not growing after birth
- absence or regression of secondary sex char
- normal ht/wt at birth—growth patterns progressively deviate
- must be distinguished from familial short stature, Turner sx, or constitutional growth delay
- get fam growth hx
CM of GH deficiency
- short—below 3rd percentile
- normal to heavy wt
- skeletal proportions normal for age
- slow bone growth
- appear younger than chronological age
- delayed eruption of permanent teeth
Therapeutic management of GH deficiency
- diagnosis based on hx, low GH levels (stimulation tests), physical exam, x-ray
- tx: daily SQ injections of GH until final adult ht reached (bone age is over 14 in F, 16 in M)
- may continue as an adult depending on skeletal age
- other HRT may be needed—thyroid extract, cortisone, T or estrogen and progesterone
GH therapy prognosis
- pretty good
- parents need expectations—won’t be super tall—depends on when started
- grow 8-9cm/year after tx depending
- response varies based on age, length of tx, frequency of doses, wt, GH receptor amount
NC for GH replacement
- fam support
- child body image
- prepare kid for daily injections (SQ)
- injections given at bedtime for best results to mimic natural release of GH
- tx very $$$
NC for GH deficiency
- identify (if clothes wear out before they outgrow them)
- assist with testing
- emo support
- teaching—injections
- promote realistic expectations
- serial blood draws q30 min after stimulation testing
Precocious puberty
Sex dev before 9 in boys and 8 in girls
- occurs more frequently in girls
- Potential causes—dx of gonads, adrenal glands, or hypothalamic-pituitary gonadal axis
- no causative factor in 80-90% in girls and 50% in boys
Precocious pseudotherapy
Just these without true puberty occurring
- Premature thelarche (breasts budding), pubarche (pubic hair), and menarche (period w/o other evidence of sex dev)
- estrogen and T trigger sx but brain not involved
- local prob with reproductive organs and adrenal glands
True or complete precocious puberty (central precocious puberty)
Identical to normal puberty but earlier
- More common
- Breast dev followed by period and pubic dev
- Testicle enlargement then other signs
- Pit gland makes gonadotropins which stim testicles or ovaries to make T or estrogen which cause physical changes
Therapeutic management of Precocious puberty
- tx of specific cause if known
- may be treated with Lupron (IM injection) which slows prepubertal growth to normal rates until normal age of puberty (stop injections then)
- psych support
Congenital adrenal hyperplasia (CAH)
- dec/defective enzyme activity required for cortisol and aldosterone production (dec production)
- causes hyperplasia of the adrenal cortex, elevated ACTH and androgen (male sex hor) levels
- early or inappropriate presence of male sex char
- auto recessive
- can be fatal
- low corticosteroids but adrenal glands work harder
- low salt and glucose
CM of CAH
- Males—precocious genital dev
- Females—ambiguous genitalia (enlarged clitoris, fused labia w/o testes, internal fem sex organs intact)
- dec stress response, hypoglycemia, inc inflam response, hypotension, compromise immune system, hyponatremic dehydration (low sodium—wt loss, dry mucus membrane, low urine)
CAH diagnostics and tx
- ultrasound at birth to confirm sex
- cortisone injection to suppress abnormally high ACTH
- reconstructive surg as required
CAH NC
- parental anxiety
- teach parents s/s dehydration and salt-losing crisis (like wt loss)—emergency—use injectable hydrocortisone at this time
- role of genetic counseling
S/S Hypothyroidism
Fatigue, exercise intolerance, slower rxn time, wt gain, constipation, sparse, coarse, and dry hair and skin, thickened skin, slow pulse, cold tolerance, muscle cramps, sides of eyebrows thin and fall out, dull facial expression, hoarse voice, slow speech, droopy eyelids, puffy and swollen face, enlarged thyroid (goiter-like growth on neck), inc menstrual flow and cramp in young girls
Hyperthyroidism sx
Enlarge thyroid (goiter), inc HR or racing heart, inc BP, slight tremor, lighter/less frequent periods, irritated or bulging eyes with redness or visible BV in sclera, pain when moving eyes, inability to fully open eyelid (Graves ophthalmyopathy), mood change like anxious, irritable, nervous, inc activity, fidgetiness, hyperactivity, restless, poor, restless sleep, fatigue, inc appetite w/ or w/o wt loss, inc # BM/day, heat intolerance (always feel warm), dec or poor school performance, probs concentrating (may be dx “late-onset” ADD),
Hypothyroidism drug NC
- don’t mix with soy
- don’t expose to heat and light; don’t place in window sill, etc
GH Stimulation tests and NC
- determine GH levels and can dx GH defiency
- nurse role—q30 min blood draw after
Agranulocytosis tx
Abx and steroids
Which condition can cause hypopigmentation?
Untreated PKU in kids
What supplements are given for galactosemia?
Calcium
When are GH injections given?
Bedtime to mimic natural release of GH
