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.
Highlights
Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract [1,2,3,4]
Renal-Coloboma Syndrome, Orofaciodigital Syndrome, Branchio-Oto-Renal Syndrome, Renal cysts and Diabetes Syndrome, Fraser Syndrome, Alagille Syndrome, and Townes–Brocks Syndrome (Table 1) are all known to be caused by point mutations in single genes and show complex phenotypes with various renal and extra-renal involvement [17,71,72,73,74,75]
A better insight in the genetic background of these syndromes allowed to broad the spectrum of genes involved in their pathogenesis, identify genetic pathways of kidney development dysregulation and, in some cases, help to explain the phenotype in patients with isolated CAKUT without extra-renal syndromic manifestations [44]
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract [1,2,3,4]. They are the most common form of malformations at birth, affecting 3–7 out of 1000 live births [5] and representing more than 20% of birth defects [6]. Children with CAKUT are known to experience a slower progression of CKD compared to those with glomerular disease [11]
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