Abstract：
Inherited diseases are a frequent cause of end-stage kidney disease and often seen in the kidney clinic. Clinical genomic testing is increasingly available in the UK and eligible patients in England can be referred through the NHS Genomic Medicine Service. Testing is useful for diagnosis, prognostication and management of conditions such as autosomal dominant polycystic kidney disease (ADPKD), Alport syndrome, autosomal dominant tubulointerstitial kidney disease (ADTKD) and focal segmental glomerulosclerosis (FSGS). As more patients undergo genomic testing and newer technologies such as whole genome sequencing are applied, we are developing a greater appreciation of the full phenotypic spectrum of inherited kidney diseases and the challenges associated with the interpretation of clinically significant variants.
摘要：
遗传性疾病是终末期肾脏疾病的常见原因，常见于肾脏诊所。在英国，临床基因组测试越来越多，英格兰符合条件的患者可以通过NHS基因组医学服务转诊。测试对诊断很有用，常染色体显性多囊肾病（ADPKD）等疾病的预后和管理，Alport综合征,常染色体显性肾小管间质性肾病（ADTKD）和局灶节段肾小球硬化（FSGS）。随着越来越多的患者接受基因组测试和应用新的技术，如全基因组测序，我们正在对遗传性肾脏疾病的完整表型谱以及与临床重要变异解释相关的挑战进行更深入的了解.
