Byler's disease: Fatal intrahepatic cholestasis**

摘要: An infant with Byler's disease from the originally described Amish kindred was studied by use of isotopic bile acids and electron microscopy to further delineate hepatic defects in this recessively inherited fatal intrahepatic cholestatic disease. To already documented abnormalities transport Bromsulphalein conjugated bilirubin are added new features abnormal acid metabolism, which demonstrate a defect excretion across canalicular membrane. The accumulation (especially lithocholic acid) may possibly cause damage. Electron microscopic changes liver consisted previously altered microvilli thickened membrane, finding coarse particulate bile. This male his father have an small Y chromosome similar those observed other patients disease; is unrelated cholestasis.