Kuwayama Fumiyo, Miyazaki Yoichi, Ichikawa Iekuni
Department of Pediatrics, Tokai University School of Medicine, Isehara, Japan.
Nephrol Dial Transplant. 2002;17 Suppl 9:45-7. doi: 10.1093/ndt/17.suppl_9.45.
Ectopia of the initial ureter is the first ontogenic mis-step that leads to many congenital anomalies of the kidney and urinary tract (CAKUT). The ectopia results in hypoplastic kidney, ectopia of the ureteral orifice, urinary outflow obstruction and/or reflux. Recent studies on several mutant mouse models verified that ectopic ureteral budding indeed occurs prior to the formation of CAKUT. Often, the genes involved in navigating the site of ureteral budding also regulate later ontogenic processes of the kidney and other urinary tract systems. These additional functions of the genes underlie the wide spectrum of CAKUT, as the genes are expressed at multiple sites at multiple ontogenic stages, and regulate the morphogenesis of the many portions of the excretory system through their distinctive cellular functions.
原始输尿管异位是导致许多肾脏和尿路先天性异常（CAKUT）的首个个体发生错误步骤。这种异位会导致肾发育不全、输尿管口异位、尿路梗阻和/或反流。最近对几种突变小鼠模型的研究证实，异位输尿管芽生确实发生在CAKUT形成之前。通常，参与引导输尿管芽生部位的基因也会调节肾脏和其他尿路系统后期的个体发生过程。这些基因的额外功能构成了CAKUT的广泛谱系，因为这些基因在多个个体发生阶段的多个部位表达，并通过其独特的细胞功能调节排泄系统许多部分的形态发生。
