Pediatrics Review - Emma Holliday Ramahi Exam | Most
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Phenylketonuria and Galactosemia.
Two disorders screened for in every state because they are disastrous if not
caught early (and happen to be a contraindication to breast feeding...)
Deficient G1p-uridyl- transferase. G1p accum to damage kidney, liver, brain.
• Sxs = MR direct hyperbili & jaundice, ↓glc, cataracts, seizures.
• Predisposed to E. coli sepsis.
• No lactose por vida.
Galactosemia.
• Deficient Phe hydrolxalase.
• Sxs = MR, vomiting, athetosis, seizures, developmental delay over 1st few mos
• Signs = fair hair, eyes, skin, musty smell.
• Low Phe diet.
Phenylketonuria.
Physiologic Jaundice. Gone by 5th
DOL. Liver conjugation not yet
mature.
3 days old, bili @ 10, direct is 0.5. Eating & pooping well.
,Breast feeding Jaundice. ↓feeding = dehydration = retain meconium & re-
absorb deconjugated bili.
7 days old, bili @ 12, direct is 0.5. dry mucous membranes, not gaining weight.
Breast milk Jaundice. Breast milk has glucuronidase and de-conj bili.
14 days old, bili @ 12, direct is 0.5. Baby regained birth weight, otherwise
healthy.
Pathologic Jaundice = on 1st DOL, bili >12, d-bili >2, rate of rise
>5/day. Test: Coombs
Positive: Rh or ABO incompatability
Negative: twin/twin or mom/fetus transfusion, IDM, spherocytosis, G6p-
DH deficiency, etc.
1 day old, bili @ 14, direct is 0.5. Are you worried? Next best test? If positive?
If negative?
Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.
7 days old. Dark urine, pale stool. Bili @ 12, dbili is 8. LFTs also elevated.
Always r/o
sepsis!
Galactosemia
Hypothyroid
Choledochal
cyst CF
Biliary atresia (<2mo)
Other causes of direct hyperbilirubinemia?
,Gilbert - ↓glucoronyl transferase
level Crigler-Najjar (type1) - total
deficiency
Random inherited causes of indirect hyperbili? (2)
Dubin-Johnson Sx - asx, black liver
Rotor Sx - NO black liver
Random inherited causes of direct hyperbili (2)
Indirect bili can cross BBB, deposit in basal ganglia and brainstem nuclei and
cause
kernicterus. (esp if bili is >20)
Why do we care about hyperbilirubinemia?
, Phototherapy (Tbil>20)--> ionizes the uncoj bili so it can be
excreted. Double volume exchange transfusion (Tbil>25) if that
doesn't work.
Treatment for hyperbilirubinemia
Diaphragmatic hernia
Concern: Pulmonary hypoplasia
Txt: If dx prenatally, plan delivery at @ place w/ ECMO. Let lungs mature
3-4 days then do surg
Baby is born w/ respiratory distress, scaphoid abdomen & this CXR.
• Biggest concern?
• Best treatment?
TE- Fistula
Dx: Place feeding tube, take xray, see it coiled in
thorax Also look for: VACTER associated anomalies-
vertebral, anal atresia, cardiac, radial and renal.
Baby is born w/ respiratory distress w/ excess
drooling. Best Dx test?
What else do you look for?
Recent Exam Actual Complete Real Exam Questions And
Correct Answers (Verified Answers) Already Graded A+
|Guaranteed Success!! Newest Exam | Just Released!!
Phenylketonuria and Galactosemia.
Two disorders screened for in every state because they are disastrous if not
caught early (and happen to be a contraindication to breast feeding...)
Deficient G1p-uridyl- transferase. G1p accum to damage kidney, liver, brain.
• Sxs = MR direct hyperbili & jaundice, ↓glc, cataracts, seizures.
• Predisposed to E. coli sepsis.
• No lactose por vida.
Galactosemia.
• Deficient Phe hydrolxalase.
• Sxs = MR, vomiting, athetosis, seizures, developmental delay over 1st few mos
• Signs = fair hair, eyes, skin, musty smell.
• Low Phe diet.
Phenylketonuria.
Physiologic Jaundice. Gone by 5th
DOL. Liver conjugation not yet
mature.
3 days old, bili @ 10, direct is 0.5. Eating & pooping well.
,Breast feeding Jaundice. ↓feeding = dehydration = retain meconium & re-
absorb deconjugated bili.
7 days old, bili @ 12, direct is 0.5. dry mucous membranes, not gaining weight.
Breast milk Jaundice. Breast milk has glucuronidase and de-conj bili.
14 days old, bili @ 12, direct is 0.5. Baby regained birth weight, otherwise
healthy.
Pathologic Jaundice = on 1st DOL, bili >12, d-bili >2, rate of rise
>5/day. Test: Coombs
Positive: Rh or ABO incompatability
Negative: twin/twin or mom/fetus transfusion, IDM, spherocytosis, G6p-
DH deficiency, etc.
1 day old, bili @ 14, direct is 0.5. Are you worried? Next best test? If positive?
If negative?
Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.
7 days old. Dark urine, pale stool. Bili @ 12, dbili is 8. LFTs also elevated.
Always r/o
sepsis!
Galactosemia
Hypothyroid
Choledochal
cyst CF
Biliary atresia (<2mo)
Other causes of direct hyperbilirubinemia?
,Gilbert - ↓glucoronyl transferase
level Crigler-Najjar (type1) - total
deficiency
Random inherited causes of indirect hyperbili? (2)
Dubin-Johnson Sx - asx, black liver
Rotor Sx - NO black liver
Random inherited causes of direct hyperbili (2)
Indirect bili can cross BBB, deposit in basal ganglia and brainstem nuclei and
cause
kernicterus. (esp if bili is >20)
Why do we care about hyperbilirubinemia?
, Phototherapy (Tbil>20)--> ionizes the uncoj bili so it can be
excreted. Double volume exchange transfusion (Tbil>25) if that
doesn't work.
Treatment for hyperbilirubinemia
Diaphragmatic hernia
Concern: Pulmonary hypoplasia
Txt: If dx prenatally, plan delivery at @ place w/ ECMO. Let lungs mature
3-4 days then do surg
Baby is born w/ respiratory distress, scaphoid abdomen & this CXR.
• Biggest concern?
• Best treatment?
TE- Fistula
Dx: Place feeding tube, take xray, see it coiled in
thorax Also look for: VACTER associated anomalies-
vertebral, anal atresia, cardiac, radial and renal.
Baby is born w/ respiratory distress w/ excess
drooling. Best Dx test?
What else do you look for?
