A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2

Título del documento: A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2
Revista: Annals of hepatology
Base de datos: PERIÓDICA
Número de sistema: 000407831
ISSN: 1665-2681
Autores: 1
Instituciones: 1Children's Hospital of Philadelphia, Division of Gastroenterology, Hepatology and Nutrition, Filadelfia, Pensilvania. Estados Unidos de América
Periodo: May-Jun
Volumen: 16
Número: 3
Paginación: 465-468
País: México
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico
Resumen en inglés Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure. Mutations in the ABCB11 gene result in a deficiency of the bile salt export protein (BSEP) and accumulation of bile inside the hepatocytes. Hepatocellular carcinoma is another condition associated with severe forms of deletion mutations in the ABCB11 gene. Treatment options including ursodeoxycholic acid biliary diversion have mixed outcomes and some patients require liver transplantation. Here, we describe two siblings with an extremely mild form of PFIC2 inherited from heterozygous parents. The elder sibling had acute liver failure at the age of six months and both siblings had pruritus, cholestasis, coagulopathy and fat-soluble-vitamin deficiencies in infancy but have been asymptomatic past infancy. Genetic testing of the siblings revealed that each were compound heterozygotes for two missense mutations of the ABCB11 gene: p.C68Y and p.R832H. Medical treatment typical for PFIC2 has not been necessary for either patient. This is the first report of these variants following a mild course in two affected patients
Disciplinas: Medicina
Palabras clave: Gastroenterología,
Colestasis intrahepática progresiva familiar
Keyword: Medicine,
Progressive familial intrahepatic cholestasis
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