罕见病研究2024,Vol.3Issue(1) :1-11.DOI:10.12376/j.issn.2097-0501.2024.01.001

遗传性罕见肾脏病:精准肾脏病学的窗口

Rare Genetic Kidney Diseases:Windows of Precision Nephrology

张磊 乐偲 刘岩 陈丽萌
罕见病研究2024,Vol.3Issue(1) :1-11.DOI:10.12376/j.issn.2097-0501.2024.01.001

遗传性罕见肾脏病:精准肾脏病学的窗口

Rare Genetic Kidney Diseases:Windows of Precision Nephrology

张磊 1乐偲 1刘岩 1陈丽萌1
扫码查看

作者信息

  • 1. 中国医学科学院北京协和医院肾内科疑难重症及罕见病全国重点实验室,北京 100730
  • 折叠

摘要

作为罕见病的重要组成部分,遗传性罕见肾脏病病种繁多,近年来其诊疗研究管理策略均有较大进步,越来越多新基因和新机制被揭示,催生了一批精准医学诊疗新技术和新药临床应用.本文系统梳理了中国罕见病目录中泌尿系统受累的罕见病,举例说明遗传性罕见肾脏病诊疗研究和管理思路、通过拓展生理机制推动新药临床应用的启示,特殊血液净化在危重罕见病领域的应用,展望了未来罕见肾脏病精准诊疗前景.

Abstract

As an important category of rare diseases,rare genetic kidney diseases have many types.In recent years,their diagnosis,treatment,research and management strategies have made great progress.Con-tinuously more new genes and mechanisms have been discovered,giving rise to new technologies and drugs for precision medicine and clinical applications.This article systematically analyzes rare diseases involving the uri-nary system listed in the catalog of rare diseases in China,gives examples to illustrate the research and man-agement methods for the diagnosis and treatment of rare genetic kidney diseases,promotes clinical applications of new drugs by expanding physiological mechanisms,introduces the application of special blood purification in the field of critical rare diseases,and provides an outlook forward to the future prospects of precise diagnosis and treatment of rare kidney diseases in China.

关键词

罕见肾脏病/罕见病/失盐性肾病/家族性肾性糖尿/精准肾脏病学

Key words

rare kidney diseases/rare diseases/salt-wasting nephropathy/familial renal glucosuria/precision nephrology

引用本文复制引用

基金项目

国家重点研发计划(2022ZD0116003)

国家自然科学基金(82170709)

北京市示范性研究型病房建设项目(BCRW202001)

中央高水平医院临床科研业务费(2022-PUMCH-B-019)

中央高水平医院临床科研业务费(2022-PUMCH-D-002)

中国医学科学院医学与健康科技创新工程(2021-I2M-1-003)

出版年

2024
罕见病研究

罕见病研究

CSTPCD
ISSN:
被引量2
参考文献量5
段落导航相关论文