A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2

被引：46

作者：

Lam, CW ^{[1
]}

Cheung, KM

Tsui, MS

Yan, MSC

Lee, CY

Tong, SF

机构：

[1] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

[2] Caritas Med Ctr, Dept Pediat, Hong Kong, Hong Kong, Peoples R China

[3] Caritas Med Ctr, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

来源：

JOURNAL OF HEPATOLOGY | 2006年 / 44卷 / 01期

关键词：

benign recurrent intrahepatic cholestasis; BRIC2; progressive familial intrahepatic cholestasis; PFIC2; ABCB11; gene;

D O I：

10.1016/j.jhep.2005.09.013

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. 1498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2. (c) 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

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页码：240 / 242

页数：3

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