Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Apr 11;18(4):796.
doi: 10.3390/ijms18040796.

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play

Valentina P Capone  1 , William Morello  2 , Francesca Taroni  3 , Giovanni Montini  4
Affiliations
Review

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play

Valentina P Capone et al. Int J Mol Sci. .

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients. The number of sporadic CAKUT cases explained by highly penetrant mutations in a single gene may have been overestimated over the years and a genetic diagnosis is missed in most cases, hence the importance of identifying new genetic approaches which can help unraveling the vast majority of unexplained CAKUT cases. The aim of our review is to clarify the current state of play and the future perspectives of the genetic bases of CAKUT.

Keywords: congenital abnormalities of the kidney and urinary tract (CAKUT); copy number variants; genetics; next-generation sequencing; renal hypodysplasia.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Sporadic CAKUT genes.
See this image and copyright information in PMC

References

    1. Vivante A., Kohl S., Hwang D., Dworschak G., Hildebrandt F. Single-gene causes of congential anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr. Nephrol. 2014;29:695–704. doi: 10.1007/s00467-013-2684-4. - DOI - PMC - PubMed
    1. Dressler G. The cellular basis of kidney development. Annu. Rev. Cell Dev. Biol. 2006;22:509–529. doi: 10.1146/annurev.cellbio.22.010305.104340. - DOI - PubMed
    1. Ichikawa I., Kuwayama F., Pope J., Stephens F., Miyazaki Y. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int. 2002;61:889–898. doi: 10.1046/j.1523-1755.2002.00188.x. - DOI - PubMed
    1. Sanna-Cherchi S., Caridi G., Weng P., Scolari F., Perfumo F., Gharavi A., Ghiggeri G. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr. Nephrol. 2007;22:1675–1684. doi: 10.1007/s00467-007-0479-1. - DOI - PMC - PubMed
    1. . Birth Defects Monitoring Program (BDMP)/Commission on Professional and Hospital Activities (CPHA) surveillance data 1988–1991. Teratology. 1993;48:658–675. - PubMed

MeSH terms