Progressive familial intrahepatic cholestasis type 3
Other Names for this Disease
- Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
- MDR3 deficiency
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jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). The condition may progress to liver failure during childhood or adulthood. PFIC3 is caused by change (mutations) in the ABCB4 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during late infancy or early childhood, which may include severe itching,
Last updated: 11/4/2015
- Progressive familial intrahepatic cholestasis type 3. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305.
- Kennedy M. Progressive Familial Intrahepatic Cholestasis. Medscape Reference. August 2013; http://emedicine.medscape.com/article/932794-overview.
- Progressive familial intrahepatic cholestasis. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis.
- Genetics Home Reference (GHR) contains information on Progressive familial intrahepatic cholestasis type 3. This website is maintained by the National Library of Medicine.
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