title: Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
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.
authors.affiliation: 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.
authors.forename: Valentina P
authors.initials: VP
authors.lastname: Capone
authors.affiliation: 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.
authors.forename: William
authors.initials: W
authors.lastname: Morello
authors.affiliation: 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.
authors.forename: Francesca
authors.initials: F
authors.lastname: Taroni
authors.affiliation: 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.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
mesh_terms: D000818:Animals; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D055106:Genome-Wide Association Study / Q000379:methods / Q000639:trends; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000378:metabolism*; D009154:Mutation; D014551:Urinary Tract / Q000002:abnormalities / Q000378:metabolism*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics*
keywords: congenital abnormalities of the kidney and urinary tract (CAKUT); copy number variants; genetics; next-generation sequencing; renal hypodysplasia