Progressive Familial Intrahepatic Cholestasis Type 1 Overview
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.
Central Imaging LLC
Roman Keller is a Radiologist in Saint Cloud, Minnesota. Dr. Keller has been practicing medicine for over 21 years and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Visceromegaly, Neurogenic Bladder, Muscle Invasive Bladder Cancer, Ascites, and Bone Marrow Aspiration.
Central Imaging LLC
Kevin Turneau is a Radiologist in Saint Cloud, Minnesota. Dr. Turneau and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Pleurisy, Pleural Effusion, Breast Lump, and Hygroma Cervical. Dr. Turneau is currently accepting new patients.
Central Imaging LLC
Nathan Danielson is a Radiologist and a Neuroradiologist in Saint Cloud, Minnesota. Dr. Danielson has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Ascites, Hepatorenal Syndrome, Pleurisy, Bone Marrow Aspiration, and Endoscopy.
Summary: The project will amalgamate data from several large Indian centers to describe the genotype, clinical spectrum, natural course, genotype-phenotype correlation, outcome, and response to medical therapy in Indian children with progressive familial intrahepatic cholestasis (PFIC). This will be the first such Indian registry of children with PFIC. There are currently limited single-center studies desc...
Published Date: December 01, 2009
Published By: National Institutes of Health