Woolf Adrian S, Price Karen L, Scambler Peter J, Winyard Paul J D
Nephro-Urology and Molecular Medicine Units, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.
J Am Soc Nephrol. 2004 Apr;15(4):998-1007. doi: 10.1097/01.asn.0000113778.06598.6f.
Human renal dysplasia is a collection of disorders in which kidneys begin to form but then fail to differentiate into normal nephrons and collecting ducts. Dysplasia is the principal cause of childhood end-stage renal failure. Two main theories have been considered in its pathogenesis: A primary failure of ureteric bud activity and a disruption produced by fetal urinary flow impairment. Recent studies have documented deregulation of gene expression in human dysplasia, correlating with perturbed cell turnover and maturation. Mutations of nephrogenesis genes have been defined in multiorgan dysmorphic disorders in which renal dysplasia can feature, including Fraser, renal cysts and diabetes, and Kallmann syndromes. Here, it is possible to begin to understand the normal nephrogenic function of the wild-type proteins and understand how mutations might cause aberrant organogenesis.
人类肾发育不全是一组疾病，其中肾脏开始形成，但随后无法分化为正常的肾单位和集合管。发育不全是儿童终末期肾衰竭的主要原因。其发病机制主要有两种理论：输尿管芽活动的原发性失败和胎儿尿流受损导致的破坏。最近的研究记录了人类发育不全中基因表达的失调，这与细胞更新和成熟的紊乱相关。在包括弗雷泽综合征、肾囊肿和糖尿病以及卡尔曼综合征等多种器官畸形疾病中，已确定了肾发生基因的突变，这些疾病中可能存在肾发育不全。在这里，有可能开始了解野生型蛋白的正常肾发生功能，并了解突变如何可能导致异常的器官发生。
