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Summary
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)
601847
OMIM = Online Medalian Inheritance of Men
172
2q31.1
very rare
autosomal recessive
mutation in the ABCB11 gene
symptoms
cholestasis
diarrhea
failure to thrive
giant cell hepatitis
growth retardation, poor growth
hepatomegaly (large liver)
jaundice
liver failure
liver involvement or dysfunction
onset, adolescent
onset, childhood
onset, infancy
pruritus
short stature
splenomegaly (large spleen)
laboratory finding
Phosphatase, alkaline U/lserum
gamma-Glutamyl transpeptidase U/lserum
Bilirubin, conjugated mg/dlserum
Literature
Peyret B,et al.Prevalence of liver complications in children receiving long-term parenteral nutritionEur J Clin Nutr656743-7492011
Nakasaki H,et al.Complication of parenteral nutrition composed of essential amino acids and histidine in adults with renal failureJPEN J Parenter Enteral Nutr17186-901993
Seashore JH,et al.Hyperammonemia during total parenteral nutrition in childrenJPEN J Parenter Enteral Nutr62114-1181982