摘要肾脏髓质囊肿病是一大类异质性疾病,在临床上并不少见,且大多数会在不同年龄进展至终末期肾病.随着二代测序等技术的发展,已发现越来越多的基因与肾脏髓质囊肿病的发病相关.尽管如此,对基因诊断结果的解释及遗传咨询仍高度依赖临床诊断,包括不同疾病的鉴别诊断等,目前仍需从临床角度作出判断.鉴于此,现对肾脏髓质囊肿病的分类、肾脏表现、肾外表现和遗传学特征作一综述.

abstractsRenal medullary cystic diseases are a large class of heterogeneous diseases,and they are common in clinic,most of them often progress to end-stage renal disease.With recent advances in genetics,increasing number of genes and genetic mutations has been identified with the etiology of renal medullary cystic diseases.Although genetic testing can provide mass data for diagnosis,clinical manifestation are even more important for clinical diagnosis,differentiation and genetic counseling for the patients.In this review,the classification,renal presentations,extra-renal presentations,and genetic analysis of renal medullary cystic diseases will be discussed.