Genetic causes of congenital diseases of the upper urinary tract. Literature review

Garmanova T.N.

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. Already there are panels, designed to test groups of genes using high-throughput sequencing of a new generation for the diagnosis of kidney and urinary tract diseases, such as polycystic kidney disease, Wilms' tumor, brahiotorenalny syndrome (examples panels KidneySeq ™: A Comprehensive Genetic Kidney Disease Panel, Ion AmpliSeq ™ Inherited Disease Panel target gene list). New generation sequencing (Next-generation sequencing (NGS)) in combination with the sequencing of all ekzom allowed to identify new genes in which mutations may cause CAKUT (DSTYK, TRAP1, TNXB).High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future. 

Author declare lack of the possible conflicts of interests. 

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congenital malformations of the genitourinary system, gene mutation, sequencing