基因测序在慢性肾脏病中的意义

Significance of genetic sequencing for chronic kidney diseases

慢性肾脏病(chronic kidney disease,CKD)一直是困扰全世界的重大卫生问题,CKD患者面临着高发病率、高死亡率及高住院率的风险,因此CKD的早期筛查和干预对患者预后改善有重大意义。但很多慢性肾脏病患者因临床症状不明显,无法明确诊断而失去了早期治疗的机会。随着人类基因组计划的进行和基因测序技术的发展,越来越多的基因被证实与囊性肾病、法布里病和常染色体显性遗传性肾小管间质病变(autosomal dominant tubulointerstitial kidney disease,ADTKD)等多种慢性肾脏病息息相关。这些基因通过与环境共同作用或孟德尔遗传的方式影响CKD的发生和发展。本文旨在从慢性肾脏病的诊断、治疗、生育指导和移植前评估等方面介绍基因测序技术在慢性肾脏病中的意义。

Chronic kidney diseases(CKDs)have always been a major health problem that puzzles the whole world.CKD patients are faced with the risk of high morbidity,high mortality and high hospitalization rate.Therefore,the early screening and intervention of CKDs are of great significance to improve the prognosis of the patients.However,many patients with chronic kidney diseases have lost the opportunity of early treatment because their clinical symptoms are not obvious and can not be diagnosed clearly.With the development of human genome project and gene sequencing technology,more and more genes have been confirmed to be closely related to many chronic kidney diseases,such as polycystic kidney disease,Fabry’s disease and autosomal dominant tubular interstitial disease(ADTKD).These genes affect the occurrence and development of CKD through interaction with environment or Mendelian inheritance.This article aims to introduce the significance of gene sequencing for CKDs in the aspects of their diagnosis,treatment,reproductive guidance and pre-transplant evaluation.