Pediatrics Flashcards
what is alagille syndrome
autosomal dominant with mutation in JAG 1 or NATCH 2
mutations associated with paucity of interlobular bile ducts that lead to chronic cholestaiss and elevations in bile acids
What are features of alagille
cholestasis
1. pulmonic stenosis, tetralogy of allot, septal defects, coarctation of aorta
2. butterfly vertebral
3, Scwable line
4, triangular facies
5. renal dysplasia
6. short stature
7. vascular anomalies (why you should get MRA as part of tx eval)
What is treatment of alagille
asbt inhibitor (block bile acid uptake) so improve pruritus
What is associated with PFIC 1
defective secretion of bile acids or other components of bile (ATP8)
normal GGT
extra hepatic manifestation (pancreas, poor growth, diarrhea)
Liver transplant doesn’t help extra hepatic issues
What is BRIC
occurs in infancy to late adulthood
- the patients present with conjugated hyperbilirubinemia, malaise, anorexia, pruritus, weight loss, and malabsorption. Laboratory tests reveal biochemical evidence of cholestasis without severe hepatocellular injury
Such episodes last for weeks to months followed by a complete clinical, biochemical, and histologic normalization
non progressive so ltx not needed
what is PFIC II
more hepatocellular dysfunction that PFIC 1, more fibrosis, more risk of HCC
no extra hepatic manifestations so ltx will cure it, but there can be recurrence post transplant
ABCB11
What if pfic III
elevated ggt, ABCB4
What are symptoms of urea cycle disorder
elevated ammonia
respiratory alkalosis
normal glucose
plasma amino acids
elevated urine orotic acids –> indicative of ornithine transcarby (OTC) deficiency
Autosomal recessive
What is treatment of urea cycle defects
Emergent:
Dialysis to remove ammonia
fix the catabolic statue with caloric supplementation
scavenge excess nitrogen: sodium benzoate, sodium pheynlacetate
IV arginine
need LTx and afterwards do fine. If OTC may need citrulline post transplant
How are mitchodoniral deficiency inherited
autosomal recessive
What are signs of mitochondrial deficinecy
ALF in neonates
liver dsiease+ cardiac+renal+ neuromuscular
diagnosis of mitochondrial deficiency
elevated lactate to pyruvate ratio >20
elevated lactic >2.5
urine organic acids
plasma acylcarnitine profile
treatment of mitochondrial liver disease
avoiding fat intkae
avoid drugs which affect mitochondrial metabolism i.e propofol, valproic acid
LTx forISOLATED LIVER DSIEASE only
ACUTE intermittent prophyria
abdominal pain withOUT skin photsensivity
LT is curative
Erythropoietic porphyria EPP
type of porphyria
protoporphyrin accumulates in bone marrow and liver –> leads to painful photosensivity
intraoperative careful attention to surgical light to minimize skin damage
biliary complications common
need both liver tx and Bone marrow transplant
