Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis

二维码有效期 120s

摘要Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive liver disease characterized by intermittent attacks of cholestasis that was first reported by Summerskill and Walshe in 1959.1 A few reports on patients with BRIC in China have been described in recent years,however,it is still a challenge to give the patients a correct diagnosis.Therefore,we collected five cases in the Beijing Friendship Hospital and the China-Japan Friendship Hospital in the past two years to summarize their clinical features,and explore the mutation region of the ATP8B1 gene from Chinese patients with BRIC.

作者单位 Liver Disease Research Center,Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China ^[1] Key Laboratory of Genome Sciences and Information,Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China ^[2] Department of Pathology, China-Japan Friendship Hospital, Beijing100029, China ^[3] Beijing Institute of Integrated Traditional and Western Medicine,Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China ^[4]

关键词 benign recurrent intrahepatic cholestasis hyperthyroidism ATP8B1

栏目名称 CLINICAL PRACTICE

DOI 10.3760/cma.j.issn.0366-6999.20132296

发布时间 2014-01-18

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