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

  • 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. Continuously 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 urinary system listed in the catalog of rare diseases in China, gives examples to illustrate the research and management 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.

     

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