Progressive familial intrahepatic cholestasis type 2
Other Names for this Disease
- BSEP 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). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 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 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching,
Last updated: 11/4/2015
- Progressive familial intrahepatic cholestasis type 2. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304.
- Melissa Kennedy, MD. 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 2. This website is maintained by the National Library of Medicine.
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