JOURNAL OF RARE DISEASES 2024;3(1):1-11

doi:10.12376/j.issn.2097-0501.2024.01.001

Rare Genetic Kidney Diseases: Windows of Precision Nephrology

Lei ZHANG 1 ; Cai YUE 1 ; Yan LIU 1 ; Limeng CHEN 1

Affiliations

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Keywords

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

Country

China

Language

Chinese

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.