Molecular Mechanisms of Isolated Polycystic Liver Diseases

被引：5

作者：

Yu, Ziqi ^{[1
]}

Shen, Xiang ^{[1
]}

Hu, Chong ^{[2
]}

Zeng, Jun ^{[2
]}

Wang, Aiyao ^{[2
]}

Chen, Jianyong ^{[2
]}

机构：

[1] Ludwig Maximilians Univ Munchen, Munich Med Res Sch, Munich, Germany

[2] Jiangxi Prov Peoples Hosp, Nanchang Med Coll, Dept Gastroenterol & Hepatol, Affiliated Hosp 1, Nanchang, Peoples R China

来源：

FRONTIERS IN GENETICS | 2022年 / 13卷

基金：

中国国家自然科学基金;

关键词：

polycystic liver disease; PLD; PCLD; PRKCSH; Sec63; LRP5; alg8; WNT; MUTATIONS; KIDNEY; RECEPTOR; PRKCSH; LRP5; GLYCOSYLATION; MANAGEMENT; GROWTH; GANAB;

D O I：

10.3389/fgene.2022.846877

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD). The main manifestation of ADPKD is kidney cysts, while PCLD has predominantly liver presentations with mild or absent kidney cysts. Over the past decade, PRKCSH, SEC63, ALG8, and LRP5 have been candidate genes of PCLD. Recently, more candidate genes such as GANAB, SEC61B, and ALR9 were also reported in PCLD patients. This review focused on all candidate genes of PCLD, including the newly established novel candidate genes. In addition, we also discussed some other genes which might also contribute to the disease.

引用

页数：8

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