Alagille's syndrome (J. Peds. 86:63,1975) is a recognizable subgroup of intrahepatic cholestasis(IHC) with characteristic dysmorphic features. A 10 year old female with comparable clinical appearance, liver biopsy showing ductular hypoplasia with cholestasis and elevated serum bile acids(BA) on phenobarbital(P) was further evaluated. BA pool size and turnover(t½) was determined with 13C-labelled-carbon-24 cholic(C) and chenodeoxycholic (CH). Hepatic anion secretion was evaluated with Rose Bengal(RB) and the dynamic BSP test (Tmax). Studies were repeated after 4 months on P and cholestyramine(Q) and 4 months on Q alone.
CONCLUSION: Despite elevated serum BA on P, an Alagille's patient had shrunken BA pools with short t½. Anion secretion was impaired. Other than reduction in serum BA with addition of Q minimal changes in BA kinetics and anion secretion were noted.