Inborn errors of biliary canalicular transport systems.

[benign recurrent intrahepatic cholestasis]

Cholestatic syndromes are inborn or acquired disorders of bile formation . In recent years , several inherited cholestatic syndromes were characterized at the molecular level : progressive familial intrahepatic cholestasis (PFIC ) and benign recurrent intrahepatic cholestasis (BRIC ). Both PFIC and BRIC were divided phenotypically in distinct subtypes ; however , at the genotype level , these clinical entities overlap . PFIC starts in early childhood and progresses toward liver cirrhosis , which often requires liver transplantation within the first decade of life . The diagnosis of PFIC is usually made on the basis of clinical and laboratory findings but needs to be confirmed by genetic and histological analysis . Only recently was it recognized that BRIC , which was estimated as a milder form of PFIC -1 , may be caused by more than one gene .

Diseases
Validation

Diseases presenting "liver transplantation within the first decade" symptom

benign recurrent intrahepatic cholestasis

You can validate or delete this automatically detected symptom