Learn About Progressive Familial Intrahepatic Cholestasis Type 1
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC.
PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Henkjan Verkade practices in Groningen, Netherlands. Mr. Verkade is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Alagille Syndrome, Liver Transplant, and Hepato-Pancreato-Biliary Surgery.
Ulrich Baumann practices in Hannover, Germany. Mr. Baumann is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Biliary Atresia, Liver Transplant, and Bone Marrow Transplant.
Emmanuel Gonzales practices in Paris, France. Mr. Gonzales is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Alagille Syndrome, Liver Transplant, and Liver Embolization.
Summary: The project has the following general aims: 1. Natural course and prognosis: To prospectively follow the natural course and prognosis of the different types of PFIC, to broaden the understanding of the different very rare diseases and to allow predictions about the course of disease in different types of PFIC. 2. Efficacy: To define the course of disease in FIC patients and identify associations w...
Summary: Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
Published Date: December 01, 2009
Published By: National Institutes of Health