Advancements in the Diagnosis and Treatment of Rare Kidney Diseases / 罕见病研究

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 novel 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.