Pediatric Nephrology

, Volume 26, Issue 3, pp 353–364

Genetics of congenital anomalies of the kidney and urinary tract


DOI: 10.1007/s00467-010-1629-4

Cite this article as:
Song, R. & Yosypiv, I.V. Pediatr Nephrol (2011) 26: 353. doi:10.1007/s00467-010-1629-4


Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births and are a major cause of morbidity in children. Notably, CAKUT account for the most cases of pediatric end-stage renal disease and predispose the individual to hypertension and cardiovascular disease throughout life. Although some forms of CAKUT are a part of a syndrome or are associated with a positive family history, most cases of renal system anomalies are sporadic and isolated to the urinary tract. Broad phenotypic spectrum of CAKUT and variability in genotype–phenotype correlation indicate that pathogenesis of CAKUT is a complex process that depends on interplay of many factors. This review focuses on the genetic mechanisms (single-gene mutations, modifier genes) leading to renal system anomalies in humans and discusses emerging insights into the role of epigenetics, in utero environmental factors, and micro-RNAs (miRNAs) in the pathogenesis of CAKUT. Common gene networks that function in defined temporospatial fashion to orchestrate renal system morphogenesis are highlighted. Derangements in cellular, molecular, and morphogenetic mechanisms that direct normal renal system development are emphasized as a major cause of CAKUT. Integrated understanding of how morphogenetic process disruptions are linked to CAKUT will enable improved diagnosis, treatment, and prevention of congenital renal system anomalies and their consequences.


Kidney developmentCAKUTRenal hypodysplasiaRenin-angiotensin

Supplementary material

467_2010_1629_MOESM1_ESM.doc (58 kb)
Supplemental Table 1Multiorgan syndromes associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans (DOC 64.5 kb)
467_2010_1629_MOESM2_ESM.doc (56 kb)
Supplemental Table 2Glossary of genes (DOC 56.5 kb)

Copyright information

© IPNA 2010

Authors and Affiliations

  1. 1.Section of Pediatric Nephrology, Department of Pediatrics, Hypertension and Renal Center of ExcellenceTulane University Health Sciences CenterNew OrleansUSA
  2. 2.Department of Pediatrics, SL-37Tulane University Health Sciences CenterNew OrleansUSA