| progressieve familiaire intrahepatische cholestase type 1 (aandoening) |
| progressieve familiaire intrahepatische cholestase type 1 |
 | Dit betekent dat je lever gal niet goed kan verwijderen. Daardoor hopen afvalstoffen zich op in je lichaam en werkt je lever niet goed. Gal is belangrijk voor de vertering van vet. |
| Progressive familial intrahepatic cholestasis type 1 |
| PFIC1 - progressive familial intrahepatic cholestasis type 1
Byler syndrome
|
| An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive. |
