DZIP1L基因与常染色体隐性遗传多囊肾病的研究进展

Progress in the Study of DZIP1L Gene and Autosomal Recessive Polycystic Kidney Disease

摘要: 常染色体隐性遗传性多囊肾病(Autosomal Recessive Polycystic Kidney Disease, ARPKD)是儿童遗传性肾脏疾病的主要原因，以前的研究认为PKHD1是ARPKD唯一的致病基因，然而，并非所有的ARPKD患者能够检测到突变的PKHD1基因，这为临床早期精准诊断带来了困扰。最近的研究发现一小部分ARPKD是由DAZ相互作用锌指蛋白1 (DZIP1L)基因突变引起的。DZIP1L突变基因的发现扩展了鉴定ARPKD的基因库，为研究ARPKD的发病机制提供了新的方向。因此，本文综述了DZIP1L的特点以及DZIP1L功能缺失造成的ARPKD囊性病变的可能的机制，旨在提高临床医师对ARPKD罕见基因的了解。

Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is the leading cause of inherited kidney disease in children, and previous studies have suggested that PKHD1 is the only causative gene in ARPKD; however, not all patients with ARPKD can be detected with mutations in the PKHD1 gene, which poses a problem for early and accurate clinical diagnosis. Recent studies have identified a small proportion of ARPKD caused by mutations in the DAZ-interacting zinc finger protein 1 (DZIP1L) gene, and the discovery of the DZIP1L mutant gene has expanded the gene pool for identifying ARPKD and provided a new direction for studying the pathogenesis of ARPKD. Therefore, this article reviews the characteristics of DZIP1L and the possible mechanisms of ARPKD cystic lesions caused by DZIP1L loss of function, aiming to improve clinicians’ understanding of the rare ARPKD gene.