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

被引：83

作者：

Capone, Valentina P. ^{[1
]}

Morello, William ^{[1
]}

Taroni, Francesca ^{[1
]}

Montini, Giovanni ^{[1
]}

机构：

[1] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Pediat Nephrol Dialysis & Transplant Unit, Dept Clin Sci & Community Hlth, I-20122 Milan, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2017年 / 18卷 / 04期

关键词：

congenital abnormalities of the kidney and urinary tract (CAKUT); genetics; renal hypodysplasia; next-generation sequencing; copy number variants; HEPATOCYTE NUCLEAR FACTOR-1-BETA; COPY-NUMBER VARIANTS; CANDIDATE GENES; NEPHRON PROGENITORS; RENAL HYPODYSPLASIA; STRUCTURAL VARIANTS; MUTATIONS; CAKUT; DISEASE; RARE;

D O I：

10.3390/ijms18040796

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：14

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