High γ-Glutamyltransferase cholangiopathies Sample Clauses

High γ-Glutamyltransferase cholangiopathies. 1.1.1.Neonatal Sclerosing Cholangitis Neonatal sclerosing cholangitis (NSC) is a rare form of severe liver disease, presenting in the newborn period. In our institution two siblings with neonatal onset sclerosing cholangitis, associated with high GGT, were previously reported, who developed biliary cirrhosis, one of whom had required a liver transplant (Xxxxx et al. 1993). The children had a strong history of consanguinity with the maternal grandfather and the paternal grandmother being siblings. The 2nd sibling in that report had subsequently also undergone liver transplantation (LT). The first report on NSC was a series of 8 children presenting within the neonatal period with cholestatic jaundice, hepatosplenomegaly, pale stools and high GGT (when available) (Xxxxxx-Manesme et al. 1987). In this paper the diagnosis of an intrahepatic cholangiopathy was confirmed during exploratory laparotomy, in an attempt to exclude biliary atresia (BA) in 2, and using percutaneous cholangiography at a later stage in all. Liver biopsy showed features of ductular proliferation, moderate inflammation and fibrosis. The majority of the patients progressed to develop biliary cirrhosis. Of interest, consanguinity was reported in 3 cases suggesting a recessive Mendelian inheritance. Paediatric sclerosing cholangitis syndromes have been subsequently divided into 3 groups: those similar to the adult primary sclerosing cholangitis (PSC), those associated with immunodeficiency (Naveh et al. 1983) and those described with Histiocytosis X (Xxxxxxx et al. 1981). In a more recent review Xxxxxxx et al have refined paediatric cholangiopathies into primary, autoimmune, and neonatal sclerosing cholangitis as well as cholangitis associated with immunodeficiency and Langerhans Cell Histiocytosis (LCH) (Mieli-Vergani and Xxxxxxx 2001).