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What is Galactosemia?
- Prevents conversion of galactose to glucose.
- Can't digest milk or sugar.
- Infants exhibit growth, retardation, hypotonia, liver damage, cataracts, and infections. Vomiting and diarrhea after feeding.
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Galactosemia Management
- Lactose restricted diet
- close monitoring for infection
- untreated equals death
- treated may have learning deficits
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What is Maple Syrup Urine Disease?
- Affects metabolism of certain amino acids
- buildup causes ketoacidosis (48-72hrs after birth)
- Infant is lethargic, poor feeding, vomiting, weight loss, seizures, and loss of reflexes.
- Urine smells like maple syrup
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Maple Syrup Urine Disease Management
- Dialysis is needed
- low protein, low amino acid diet
- untreated can die quickly
- treated can have neurologic deficits
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Tay-Sachs Disease
- Affects the Jewish population
- after 6 months infant begins to display neurplogic deterioration
- Macrocephaly, seizures, blindness, deafness and death in early childhood
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Tay-Sachs Disease Management
symptomatic and supportive
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Congenital Hypothyroidism S/S
- mottled skin
- large frontanel
- large tounge
- hypotonic muscle tone
- slow reflexes
- distended abdomen
- prolonged jaundice
- lethargy
- feeding problems
- coldness to touch
- umblilical hernia
- hoarse cry
- excessive sleeping
- Can cause mental retardation that cannot be reversed
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Management for Congenital Hypothyroidism
- Synthetic thyroid hormone replacement (levothyroxine, synthroid)
- Sick day rules-repeat dose if throw up within one hour of med admin. Repeat dose
- Monitor Pulse for changes
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Hypothyroidism S/S
- Fatigue
- constipation
- cold intolerance
- weight gain
- dry thick skin
- edema of face, eyes, hands
- decreased growth
- decreased energy
- muscle hypertrophy
- decreased heart rate
- delayed skeletal maturation
- delayed puberty
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Hypothyroidism Management
Synthetic thyroid hormone (levothyroxine, synthroid)
Teach s/s of hyperthyroidism
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Hyperthyroidism S/S
- Nervousness, anxiety
- Diarrhea
- heat intolerance
- weight loss
- smooth, velvet skin
- prominent eyes
- accelerated linear growth
- emotional lability
- muscle weakness
- increased heart rate
- high BP
- tremor
- increased appetite
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Hyperthyroidism Management
- Antithyroid drug therapy (propylthiouracil, methimazole)
- oral radioactive iodine treatment
- subtotal or total thyroidectomy
- Can cause changes in bone marrow suppression
- *Call Dr if baby is sick*
- watch for s/s of hypothyroidism
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What is Congenital Adrenal Hyperplasia?
- Autosomal recessive
- Not enough glucocorticoid
- Lack of cortisol leas to male hormones produced
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Congenital Adrenal Hyperplasia S/S
- ambiguous genitalia
- Salt washing-depleted Na, increased K, dehydrated, HTN
- short stature
- early pubic hair
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Congenital Adrenal Hyperplasia (CAH) Management
- glucocorticoid (hydrocortisol, fludrocortisone)
- Sick day rules- 2-3x more
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Precocious Puberty
Signs of secondary development before age 8 in girls & age 9 in boys
- Concerning because during puberty get last growth spurt
- Want adequate time for growth
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Precocious Puberty Girls S/S
- Breast development
- pubic hair
- axillary hair
- enlargement of vagina, uterus, ovaries
- acne
- growth spurt
- adult body odor
- onset of mentruation
- moodiness
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Precocious Puberty Boys S/S
- Testicular enlargement
- Penile enlargement
- Pubic hair
- Facial hair
- acne
- adult body odor
- deepening of voice
- moodiness
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Precocious Puberty Management
- Gonadotropin releasing hormone agonist (GnRH)
- Given intranasally or by monthly IM injection
- Psychosocial support
- child needs to be treated based on age
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Growth Hormone Deficiency
- height less than 5th percentile for age
- diminished growth rate (<5cm/year)
must consider family height
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Growth Hormone Deficiency S/S
- Immature or cherub face
- delayed puberty
- hypoglycemia
- diminished muscle mass with increased adipose tissue
- micropenis
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Growth Hormone Deficiency Management
- Synthetic growth hormone replacement
- reconstituted, refridgerated, subQ
- administer at bedtime
- Until adequate height or until growth plates fuse
- Psychosocial support
- Talk tot hem as their age not appearance
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