Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a Prare autosomal recessive liver disease characterizedby 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...

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Veröffentlicht in:Chinese medical journal 2013, Vol.126 (24), p.4802-4803
Hauptverfasser: Ze, Xing-Yu, Zhao, Xin-Yan, Jiang, Jun, Jia, Ji-Dong, Wang, Tai-Ling, Wang, Bao-En
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Sprache:eng
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Zusammenfassung:Benign recurrent intrahepatic cholestasis (BRIC) is a Prare autosomal recessive liver disease characterizedby 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.
ISSN:0366-6999
2542-5641
DOI:10.3760/cma.j.issn.0366-6999.20132296