| 释义 |
Byler disease By·ler dis·ease (bī'lĕr), progressive intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, dwarfism, and occasionally death; due to an error in conjugated bile salt metabolism; autosomal recessive inheritance, caused by mutation in the familial intrahepatic cholestasis 1 gene (FIC1) on chromosome 18q. [Byler, an Amish kindred] Byler disease (bil'er) An inherited disorder with a defect on chromosome 18 in which infants develop cholestatic jaundice and eventually cirrhosis. A high incidence of retinitis pigmentosa is associated with this disease, and mental retardation is frequently seen in affected children. Death from liver disease occurs by adolescence. Synonym: progressive familial intrahepatic cholestasisillustrationByler, Amish kindred in the U.S. Byler disease - genetic trait in Amish children that causes fatal intrahepatic arrest of bile flow. |