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

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...

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Published inInternational journal of molecular sciences Vol. 18; no. 4; p. 796
Main Authors Capone, Valentina, Morello, William, Taroni, Francesca, Montini, Giovanni
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 11.04.2017
MDPI
Subjects
Animals
Congenital diseases
Gene Expression Regulation
Genetic Predisposition to Disease - genetics
Genetic Testing - methods
Genetic Testing - trends
Genome-Wide Association Study - methods
Genome-Wide Association Study - trends
Humans
Kidney - abnormalities
Kidney - metabolism
Mutation
Review
Urinary Tract - abnormalities
Urinary Tract - metabolism
Urogenital Abnormalities - diagnosis
Urogenital Abnormalities - genetics
Urogenital system
copy number variants
genetics
renal hypodysplasia
next-generation sequencing
congenital abnormalities of the kidney and urinary tract (CAKUT)
Online AccessGet full text
ISSN1422-0067
1661-6596
1422-0067
DOI10.3390/ijms18040796

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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.
AbstractList 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.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.
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.
Author Morello, William
Montini, Giovanni
Capone, Valentina
Taroni, Francesca
AuthorAffiliation 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 (V.P.C.); williammorello82@gmail.com (W.M.); francesca.taroni@policlinico.mi.it (F.T.)
AuthorAffiliation_xml – name: 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 (V.P.C.); williammorello82@gmail.com (W.M.); francesca.taroni@policlinico.mi.it (F.T.)
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  orcidid: 0000-0002-7350-4475
  surname: Montini
  fullname: Montini, Giovanni
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Keywords copy number variants
genetics
renal hypodysplasia
next-generation sequencing
congenital abnormalities of the kidney and urinary tract (CAKUT)
Language English
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Snippet 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...
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...
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StartPage 796
SubjectTerms Animals
Congenital diseases
Gene Expression Regulation
Genetic Predisposition to Disease - genetics
Genetic Testing - methods
Genetic Testing - trends
Genome-Wide Association Study - methods
Genome-Wide Association Study - trends
Humans
Kidney - abnormalities
Kidney - metabolism
Mutation
Review
Urinary Tract - abnormalities
Urinary Tract - metabolism
Urogenital Abnormalities - diagnosis
Urogenital Abnormalities - genetics
Urogenital system
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Title Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play
URI https://www.ncbi.nlm.nih.gov/pubmed/28398236
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Volume 18
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