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  1. Mar 16, 2023 · Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and ...

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  2. Aug 18, 2015 · Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of renal disorders that commonly cause end-stage renal disease in children, but their genetic basis is largely unknown.

    • Nayia Nicolaou, Kirsten Y Renkema, Ernie M H F Bongers, Rachel H Giles, Nine V A M Knoers
    • 2015
  3. Feb 10, 2023 · The spectrum of CAKUT prevalent in patients with chromosomal abnormalities is well established, with vesicoureteral reflux and lower urinary tract obstruction being predominant . In addition to CAKUT, a recent report revealed that children with Down syndrome have smaller kidneys and decreased glomerular filtration rate compared to age-matched controls [ 32 ].

    • Robert L. Chevalier
    • Pediatr Rep. 2023 Mar; 15(1): 143-153.
    • 10.3390/pediatric15010012
    • 2023/03
  4. May 7, 2020 · Although severe CAKUT is rare, low nephron number is a much more common disorder with its effect on kidney function increasingly apparent as a person ages. Low nephron number appears to arise by the same mechanisms as CAKUT, but it differs in terms of the magnitude of the insult and the timing of when it occurs during gestation.

    • Vasikar Murugapoopathy, Indra R. Gupta, Indra R. Gupta
    • 2020
  5. A total of 925 children with CAKUT who underwent genetic testing from 2014 to 2020 across China were studied. Data for a total of 584 children wereobtained from the CCGKDD, including longitudinal data regarding kidney function. The risk factors for kidney failure were determined by the Kaplan-Meier method and Cox proportional hazards models.

  6. Aug 14, 2023 · Next-generation sequencing has led to a rise of recognized monogenic causes of isolated and syndromic CAKUT. 9, 10 Although over 60 genes are known to cause CAKUT if mutated, a genetic etiology has been detected, on average, in only 16% of unselected patients with CAKUT. 11 The genetically characterized CAKUT cohorts have been rather heterogeneous, often lacking detailed data on the severity ...

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  8. Syndromic CAKUT in which an underlying genetic aetiology was known and individuals with non-syndromic and non-familial forms of VUR ... Isolated and syndromic without ...

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