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CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)
601847
OMIM = Online Mendelian Inheritance of Men
172
Bile salt export pump
2q31.1
K76.8
very rare
autosomal recessive
mutation in the ABCB11 gene
Laboratory findings    Bilirubin, conjugated inc (serum)
    gamma-Glutamyl transpeptidase normal/inc (serum)
    Phosphatase, alkaline inc (serum)
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)