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.
Radiology Associates Of Durango PC
Kurt Rohren is a Radiologist in Cortez, Colorado. Dr. Rohren 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, Pleural Effusion, Pleurisy, and Vertigo.
Southwest Medical Group
Amanda Mullen is a Family Medicine provider in Cortez, Colorado. Dr. Mullen and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. Her top areas of expertise are Idiopathic Edema, Hyperhidrosis, Type 2 Diabetes (T2D), and Tenosynovitis. Dr. Mullen is currently accepting new patients.
La Plata Family Medicine Assoc PC
Krista Ault is a Family Medicine provider in Durango, Colorado. Dr. Ault and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Obesity in Children, and Hypothyroidism.
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