Trafficking and Transporter Disorders in Pediatric Cholestasis

被引：12

作者：

Knisely, A. S. ^{[1
]}

Gissen, Paul ^{[2
,3
]}

机构：

[1] Kings Coll Hosp London, Inst Liver Studies, London SE5 9RS, England

[2] Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England

[3] Birmingham Childrens Hosp, Metab Unit, Birmingham B4 6NH, W Midlands, England

来源：

CLINICS IN LIVER DISEASE | 2010年 / 14卷 / 04期

关键词：

Pediatric cholestasis; Bile salt export pump; Multidrug resistance protein; Genetic diagnosis; Cell polarity; FAMILIAL INTRAHEPATIC CHOLESTASIS; SALT EXPORT PUMP; MICROVILLUS INCLUSION DISEASE; BILE-ACID TRANSPORT; CANALICULAR MEMBRANE; RENAL DYSFUNCTION; ATP8B1; DEFICIENCY; BYLER DISEASE; MUTATIONS; GENE;

D O I：

10.1016/j.cld.2010.08.001

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

This article describes the uses of immunostaining in the diagnosis of cholestasis To immunostain for bile salt export pump (BSEP) and multidrug resistance protein 3 in severe hepatobiliary disease manifest early in life can rapidly identify whether sequencing of ABCB11 or ABCB4 is likely to yield a genetic diagnosis To immunostain for canalicular ectoenzymes as well as transporters with transmission electron microscopy can suggest whether sequencing of ATP8B1 is likely to yield a genetic diagnosis Demonstrating BSEP expression can direct attention to bile acid synthesis disorders Immunostaining for multidrug resistance-associated protein 2 serves principally as a control for adequacy of processing

引用

页码：619 / +

页数：16

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