罕见病研究2024,Vol.3Issue(1) :12-17.DOI:10.12376/j.issn.2097-0501.2024.01.002

罕见肾脏病诊治进展

Advancements in the Diagnosis and Treatment of Rare Kidney Diseases

陈楠
罕见病研究2024,Vol.3Issue(1) :12-17.DOI:10.12376/j.issn.2097-0501.2024.01.002

罕见肾脏病诊治进展

Advancements in the Diagnosis and Treatment of Rare Kidney Diseases

陈楠1
扫码查看

作者信息

  • 1. 上海交通大学医学院附属瑞金医院肾脏科上海交通大学医学院肾脏病研究所,上海 200025
  • 折叠

摘要

罕见肾脏病是导致肾衰竭的重要病因之一,其中大部分是遗传性肾脏病.成人慢性肾脏病中遗传性疾病所占比例低于儿童,但仍有近10%的成人慢性肾脏病患者由单个致病基因变异所致.近十多年以来,随着不断迭代更新的测序技术在临床广泛应用,罕见肾脏病的诊断能力不断提高.同时,该领域也面临诸多挑战,尤其在新型治疗药物研发及应用方面.2018 年和2023 年先后公布的中国罕见病目录,全面推动和促进了中国罕见肾脏病的诊治和研究.

Abstract

Rare kidney diseases constitute a significant factor leading to kidney failure with many having a hereditary basis.The incidence of inherited disorders contributing to adult chronic kidney disease is lower compared to that in children;however,up to 10%of adult patients with chronic kidney disease are affected by a single-gene pathogenic variant.Over the past decade,sequencing technologies have become widely utilized in clinical settings,undergoing continuous iterations and updates to enhance the diagnosis of rare kidney diseases.Simultaneously,the field confronts numerous challenges,particularly in the development and application of no-vel therapeutic drugs.In an era crucial development,China is set to publish rare disease catalogs in 2018 and 2023,a move that holds the promise of comprehensively advancing the diagnosis,treatment,and research of rare kidney diseases in the country.

关键词

罕见肾脏病/罕见病/基因诊断/诊断/治疗

Key words

rare kidney diseases/rare diseases/genetic diagnosis/diagnosis/treatment

引用本文复制引用

基金项目

Shanghai'Rising Stars of Medical Talent'Youth Development Program(SHWSRS2023_62)

国家自然科学基金(82270739)

国家自然科学基金(81900656)

国家自然科学基金(81870460)

国家自然科学基金(81570598)

国家自然科学基金(81370015)

上海市"医苑新星"青年医学人才项目(沪卫人事[2023]62号)

上海交通大学"交大之星"计划医工交叉研究基金项目(YG2019QNA37)

上海交通大学"交大之星"计划医工交叉研究基金项目(YG2019ZDA18)

出版年

2024
罕见病研究

罕见病研究

CSTPCD
ISSN:
参考文献量9
段落导航相关论文