Progressive Familial Intrahepatic Cholestasis

被引：127

作者：

Bull, Laura N. ^{[1
]}

Thompson, Richard J. ^{[2
]}

机构：

[1] Univ Calif San Francisco, UCSF Liver Ctr Lab, Zuckerberg San Francisco Gen, Dept Med, 1001 Potrero Ave,Bldg 40,Room 4102, San Francisco, CA 94110 USA

[2] Kings Coll London, Kings Coll Hosp, Inst Liver Studies, Denmark Hill, London SE5 9RS, England

来源：

CLINICS IN LIVER DISEASE | 2018年 / 22卷 / 04期

关键词：

Cholestasis; Genetics; Bile acids; Pediatrics; PFIC; SALT EXPORT PUMP; FARNESOID-X-RECEPTOR; MICROVILLUS INCLUSION DISEASE; MDR2; P-GLYCOPROTEIN; KINASE-C ZETA; LIVER-TRANSPLANTATION; CANALICULAR MEMBRANE; MYOSIN VB; HEPATOCELLULAR-CARCINOMA; BILIARY DIVERSION;

D O I：

10.1016/j.cld.2018.06.003

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.

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页码：657 / +

页数：14

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