Cai Ze-Yu, Zhao Jian-Rong
Department of Nephrology,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010000,China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2022 Jun;44(3):484-490. doi: 10.3881/j.issn.1000.503X.13465.
Rare diseases refer to the diseases with low prevalence,among which more than 150 kinds involve the kidney.Most of the rare renal diseases have genetic background.Due to complex etiology and diverse clinical phenotypes,most patients have progressed to the final stage of the disease before a clear diagnosis.Gene testing is a powerful tool for the diagnosis of rare renal diseases.The emergence of the next-generation sequencing (NGS) significantly improves the diagnostic efficiency and quality and provides an unprecedented opportunity to understand the molecular genetic basis of rare renal diseases and further select or develop targeted therapies.This article reviews the application progress,challenges,and prospects of NGS in rare kidney diseases.
罕见病是指患病率较低的疾病，其中150多种累及肾脏。大多数罕见肾病具有遗传背景。由于病因复杂且临床表型多样，大多数患者在明确诊断前已进展至疾病终末期。基因检测是诊断罕见肾病的有力工具。新一代测序（NGS）技术的出现显著提高了诊断效率和质量，为了解罕见肾病的分子遗传基础以及进一步选择或开发靶向治疗提供了前所未有的机遇。本文综述了NGS在罕见肾病中的应用进展、挑战及前景。
