Vivante Asaf, Kohl Stefan, Hwang Daw-Yang, Dworschak Gabriel C, Hildebrandt Friedhelm
Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8.
Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40-50 % of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently, only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single-gene causes of CAKUT and their developmental origin. Currently, more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.
先天性肾脏和尿路畸形（CAKUT）涵盖了一系列由肾脏和/或尿路形态发生缺陷导致的结构畸形。这些畸形在全球范围内约占慢性肾病儿童的40%-50%。来自基因改造小鼠模型的知识表明，肾脏发育基因中的单基因突变可能导致人类出现CAKUT。然而，直到最近，仅报道了少数几个导致CAKUT的基因，其中大多数是在家族性综合征病例中发现的。最近的研究结果表明，CAKUT可能源于多种不同单基因病因的突变。我们在此关注CAKUT的单基因病因及其发育起源。目前，已鉴定出20多个导致CAKUT的单基因。高通量测序技术使得在不久的将来有可能鉴定出更多导致CAKUT的基因。
