下一代测序技术在罕见肾脏病中的应用

Application of Next-Generation Sequencing in Rare Renal Diseases

罕见病是对具有极低患病率疾病的统称,其中150余种可累及肾脏。罕见肾脏病大多具有遗传背景,但由于其病因复杂、临床表型多样等原因,多数患者在未得到明确诊断时就已进展至疾病终末阶段。基因检测是罕见肾脏病诊断的有力工具,而下一代测序(NGS)技术的出现则显著提升了罕见肾脏疾病的诊断效率和质量,为我们了解罕见肾脏病的分子遗传学基础、选择或研发具有针对性的治疗方式等提供了新的方法。本文就NGS在罕见肾脏病中的应用进展、现存挑战及发展前景进行综述。

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.