The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments

被引：20

作者：

Felzen, Antonia ^{[1
,2
]}

Verkade, Henkjan J. ^{[1
,2
]}

机构：

[1] Univ Groningen, Univ Med Ctr Groningen, Pediat Gastroenterol & Hepatol, Groningen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Pediat Gastroenterol & Hepatol, Dept Pediat,Beatrix Childrens Hosp, POB 30-001, NL-9700 RB Groningen, Netherlands

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2021年 / 64卷 / 11期

关键词：

FIC1; deficiency; BSEP deficiency; MDR3; Progressive familial cholestasis; Bile diversion; ASBT inhibition; EXTERNAL BILIARY DIVERSION; CHEMICAL CHAPERONES; 4-PHENYLBUTYRATE; MUTATIONS; THERAPY; TRAFFICKING; OUTCOMES; ATP8B1;

D O I：

10.1016/j.ejmg.2021.104317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Progressive Familial Intrahepatic Cholestasis (PFIC) disease spectrum encompasses a variety of genetic diseases that affect the bile production and the secretion of bile acids. Typically, the first presentation of these diseases is in early childhood, frequently followed by a severe course necessitating liver transplantation before adulthood. Except for transplantation, treatment modalities have been rather limited and frequently only aim at the symptoms of cholestasis, such as cholestatic pruritus. In recent years, progress has been made in understanding the pathophysiology of these diseases and new treatment modalities have been emerging. Herewith we summarize the latest developments in the field and formulate the current key questions and opportunities for further progress.

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