La Scola Claudio, Hewitt Ian, Pasini Andrea, Pugliese Fabrizio, Montini Giovanni
Nephrology and Dialysis Unit, Pediatric Department, Azienda Ospedaliera di Bologna, Italy.
J Matern Fetal Neonatal Med. 2010 Oct;23 Suppl 3:97-100. doi: 10.3109/14767058.2010.509939.
Renal hypodysplasia (RHD) is a congenital disorder, characterized by an abnormally developed kidney. Mutations in genes such as PAX2, HNF1-beta, TCF2, EYA1, that encode factors critical in early renal development, are being found. RHD is the leading cause of chronic renal failure in childhood, with or without associated urologic abnormalities such as vesicoureteric reflux and urinary tract obstruction. Antenatal detection has improved understanding of this disorder, resulting in enhanced outcomes through earlier intervention, including peritoneal dialysis. Management requires a multidisciplinary team approach that commences prior to the birth of the child.
肾发育不全（RHD）是一种先天性疾病，其特征是肾脏发育异常。人们发现，在早期肾脏发育中起关键作用的编码因子的基因如PAX2、HNF1-β、TCF2、EYA1发生了突变。RHD是儿童慢性肾衰竭的主要原因，无论是否伴有诸如膀胱输尿管反流和尿路梗阻等相关泌尿系统异常。产前检测增进了对这种疾病的了解，通过包括腹膜透析在内的早期干预改善了治疗效果。管理需要多学科团队方法，且在患儿出生前就开始。
