Case Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis
نویسندگان
چکیده
منابع مشابه
Recurrent intrahepatic cholestasis of pregnancy. A case report.
Intrahepatic cholestasis of pregnancy (ICP) represents a rare but severe pathology with serious consequences on the outcome of pregnancy. We present the cases of two sisters that came to our clinic with ICP in successive pregnancies. The fetus from a pregnancy with cholestasis can be affected by preterm birth, respiratory distress syndrome, intrauterine death in the third trimester and a possib...
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Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected...
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Introduction Progressive familial intrahepatic cholestasis (PFIC) represents a group of disorders which usually begin in the first months of life and progress to cirrhosis before the end of second decade. The disease occurs due to a defect in bile acid transport leading to cholestasis and resultant hepatocelluler injury1-3. Recent molecular and genetic studies have identified genes responsible ...
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ژورنال
عنوان ژورنال: JPGN Reports
سال: 2021
ISSN: 2691-171X
DOI: 10.1097/pg9.0000000000000087