2011
DOI: 10.1093/ndt/gfr655
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Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include renal agenesis, kidney hypo-/dysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. While most CAKUT cases are sporadic, familial clustering of CAKUT is common, emphasizing a strong genetic contribution to CAKUT origin. Animal experiments demonstrate that alterations in g… Show more

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Cited by 88 publications
(66 citation statements)
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“…Bilateral lesions were found presented in 22.2% cases. We observed a very small percentage of known chromosomopathies, genetic syndromes and associated non-renal and non-cardiac anomalies in our sample, in comparison with data in the literature (10,23). This may be explained in the most part by the fact that some were lost because they were in critically ill infants, but also by the absence of systematic genetic search in our practice.…”
Section: Discussioncontrasting
confidence: 62%
“…Bilateral lesions were found presented in 22.2% cases. We observed a very small percentage of known chromosomopathies, genetic syndromes and associated non-renal and non-cardiac anomalies in our sample, in comparison with data in the literature (10,23). This may be explained in the most part by the fact that some were lost because they were in critically ill infants, but also by the absence of systematic genetic search in our practice.…”
Section: Discussioncontrasting
confidence: 62%
“…Efforts should be made to improve disease classification by comprehensive reference to the clinical, genetic, and molecular features of the disorders. More appropriate disease classification, ideally combined with life-long patient follow-up in dedicated registries, will contribute to improved prognostic counseling and personalized disease management among patients with congenital kidney malformations (30). The ERA-EDTA Registry is funded by the ERA-EDTA.…”
Section: Discussionmentioning
confidence: 99%
“…Voiding cystourethrography is most often done in children suffering from urinary infections in order to confirm or exclude the existence of a vesicoureteral reflux (8).…”
Section: Methodsmentioning
confidence: 99%