Abstract
FAMILIAL BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS RESPONSE TO URTHODOXYCHOLIC ACID

*Dr. Motwakil lmam Awadelkareim lmam

ABSTRACT

Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years. The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness followed by jaundice a few weeks later. Case study: A 23 years old Sudanese male presented to us at ELmek Nimer university hospital complain of generalized itching, constipation, yellowish discoloration of sclera and he passed dark urine, with recurrent attack of similar conditions during the last 5 years with extensively investigations to kwon what are the cause of his jaundice, also with multiple trial of management without any improvement. Based on his condition and positive family we diagnosed him as familial benign recurrent intrahepatic cholestasis. Start treatment with Urthodoxycholic acid with dramatic response and improvement in his condition and liver function test. DISCUSSION: Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepaticcholestasis type 2 (BRIC2). These two genes are involved in the release of bile, a fluid produced by the liver that helps digest fats. Conclusion: The present case is support the use of Urthodoxycholic acid for the treatment of cholestatic liver diseases, and showed excellent out come in the treatment of familial benign recurrent intrahepatic cholestasis.

Keywords: intrahepatic cholestasis, jaundice, Urthodoxycholic acid.


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