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Int J Mol Sci. 2017 Apr 11;18(4). pii: E796. doi: 10.3390/ijms18040796.

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

Author information

1
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, 20122 Milano, Italy. valentina.capone@unimi.it.
2
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, 20122 Milano, Italy. williammorello82@gmail.com.
3
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, 20122 Milano, Italy. francesca.taroni@policlinico.mi.it.
4
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, 20122 Milano, Italy. giovanni.montini@unimi.it.

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

PMID:
28398236
PMCID:
PMC5412380
DOI:
10.3390/ijms18040796
[Indexed for MEDLINE]
Free PMC Article

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