先天性和遗传性肾脏病是儿童尿毒症的主要原因、成人尿毒症的重要原因；罕见肾脏病种类繁多，大多数罕见病与遗传有关。环境因素、基因遗传因素以及表观遗传因素是引起先天·遗传·罕见肾脏病的重要原因。随着基因测序和生物信息分析技术的进步，过去很多诊断困难的先天·遗传·罕见肾脏病，通过临床、影像、分子病理和基因检测已逐渐能够精准诊断；通过早期的健康管理、对症支持治疗、针对分子发病机制的靶向治疗、基因或干细胞疗法以及中医中药治疗等，可以延缓疾病的进展。一些单基因遗传病，如常染色体显性遗传性多囊肾病和Alport综合征，通过体外受精、胚胎优选，可以预防其发生。为此，应重视先天·遗传·罕见肾脏病的基础和临床研究，力求精准诊断、有效治疗，阻断疾病的遗传，保护肾功能，改善患者的生活质量。

Congenital and inherited kidney diseases are the major causes of childhood uremia, and important causes of adult uremia, while there is a wide variety of rare kidney diseases, most of which are related to inheritance. Environmental factors, genetic factors, and epigenetic factors are important reasons to cause congenital-inherited-rare kidney diseases. With the progress of gene sequencing and bioinformatics analysis technology, many congenital-inherited-rare kidney diseases that were very difficult to diagnose in the past, have gradually been able to be precisely diagnosed by means of clinical, imaging, molecular pathological, and gene detection methods. Progression of these diseases can be delayed through early health management, symptomatic supporting treatment, molecular-mechanism-targeted therapy, gene or stem cell therapy and traditional chinese medicine. Some single-gene genetic diseases, such as autosomal dominant polycystic kidney disease and Alport syndrome, may be prevented from their occurrence through the in vitro fertilization and embryo selection techniques. Therefore, attention should be paid to the basic and clinical research of congenital-inherited-rare kidney diseases, striving for precise diagnosis and effective treatment, blocking disease inheritance, protecting renal function, and improving quality of life of patients.