Molecular Mechanisms of Isolated Polycystic Liver Diseases

Ziqi Yu; Xiang Shen; Chong Hu; Jun Zeng; Aiyao Wang; Jianyong Chen

doi:10.3389/fgene.2022.846877

Molecular Mechanisms of Isolated Polycystic Liver Diseases

Front Genet. 2022 Apr 26:13:846877. doi: 10.3389/fgene.2022.846877. eCollection 2022.

Authors

Ziqi Yu¹, Xiang Shen¹, Chong Hu², Jun Zeng², Aiyao Wang², Jianyong Chen²

Affiliations

¹ Munich Medical Research School, LMU Munich, Munich, Germany.
² Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Nanchang Medical College, Jiangxi Provincial People's Hospital, Nanchang, China.

Abstract

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.

Keywords: LRP5; PCLD; PLD; PRKCSH; Sec63; alg8; polycystic liver disease.

Publication types

Review