[Progressive familial intrahepatic cholestasis and hereditary anomalies lf hepatocellular metabolism of bile acids].

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ), also known as Byler disease , is an inherited cholestasis of hepatocellular origin which is characterized by cholestasis presenting often in the neonatal period leading to death due to liver failure at ages ranging from infancy to adolescence . The pattern of appearance of affected children within families is consistent with autosomal recessive inheritance . The etiology is poorly understood but several studies have recently provided support for an heterogeneity with at least three subcategories among the spectrum of PFIC . The first subtype is characterized by an early onset , often during the neonatal period , a severe pruritus , normal serum gamma-glutamyltransferase (GGT ) activity and cholesterol level , high concentration of serum primary bile acids , absence or very low levels of primary bile acids , absence or very low levels of primary bile acids in bile , and absence of ductular proliferation on standard optical liver histology . Its leads to death due to liver failure within a few years , rarely after adolescence . It is possibly due to an inborn error in primary bile acid secretion and recently , a locus for this subtype has been mapped in the original Byler pedigree to 18 q 21 -q 22 , the benign recurrent intrahepatic cholestasis region . In the second subtype , affected children exhibit also normal serum GGT activity and cholesterol level and absence of ductular proliferation , but have no pruritus and only traces of primary bile acids in serum . An inborn error in primary bile acid synthesis has been demonstrated in this subtype . The third subtype presents later in life , carries a higher risk of portal hypertension and gastrointestinal bleeding and ends in liver failure at a later age . It is characterized by a mild and unconstant pruritus , high GGT serum activity , moderately raised concentrations of serum primary bile acids , normal concentration of biliary primary bile acids , and ductular proliferation and inflammatory infiltrate with patency of intra and extrahepatic bile ducts . An abnormal expression of the MDR 3 gene is involved . A fair proportion of children affected with all subtypes of PFIC may benefit from oral bile acid therapy . In some cases partial external biliary diversion or liver transplantation should be proposed .

Diseases
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Diseases presenting "first subtype" symptom

benign recurrent intrahepatic cholestasis

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