Genetics of vesicoureteral reflux

Puri, Prem; Gosemann, Jan‐Hendrik; Darlow, John M; Barton, D. E.

doi:10.1038/nrurol.2011.113

Cited by 35 publications

(21 citation statements)

References 145 publications

(178 reference statements)

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“…For example single gene causes of primary VUR are still elusive despite the fact that multiple disease loci were published [69]. Although primary VUR is one of the most commonly detected CAKUT presentations, its phenotypic case ascertainment is challenging.…”

Section: Discussionmentioning

confidence: 99%

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

et al. 2014

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Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40–50% of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single gene causes of CAKUT and their developmental origin. Currently more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.

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Section: Discussionmentioning

confidence: 99%

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

et al. 2014

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“…; Puri et al. ]). However, for nonsyndromic VUR, mutations accounting for only a small proportion of cases have been found, and most of these were in patients with CAKUT ( PAX2 [Nishimoto et al.…”

Section: Introductionmentioning

confidence: 99%

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development

Darlow

Dobson

Darlay

et al. 2013

Molec Gen & Gen Med

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Primary vesicoureteric reflux (VUR), the retrograde flow of urine from the bladder toward the kidneys, results from a developmental anomaly of the vesicoureteric valve mechanism, and is often associated with other urinary tract anomalies. It is the most common urological problem in children, with an estimated prevalence of 1–2%, and is a major cause of hypertension in childhood and of renal failure in childhood or adult life. We present the results of a genetic linkage and association scan using 900,000 markers. Our linkage results show a large number of suggestive linkage peaks, with different results in two groups of families, suggesting that VUR is even more genetically heterogeneous than previously imagined. The only marker achieving P < 0.02 for linkage in both groups of families is 270 kb from EMX2. In three sibships, we found recessive linkage to KHDRBS3, previously reported in a Somali family. In another family we discovered sex-reversal associated with VUR, implicating PRKX, for which there was weak support for dominant linkage in the overall data set. Several other candidate genes are suggested by our linkage or association results, and four of our linkage peaks are within copy-number variants recently found to be associated with renal hypodysplasia. Undoubtedly there are many genes related to VUR. Our study gives support to some loci suggested by earlier studies as well as suggesting new ones, and provides numerous indications for further investigations.

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“…Several congenital syndromes associated with VUR as Renal coloboma o Brachio-otorenal syndrome were know [2]. The 18q syndrome affecting the patient that we present isn’t included among these syndromes despite some cases presenting VUR have been reported [4]. …”

Section: Introductionmentioning

confidence: 99%

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

et al. 2013

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BackgroundVesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).Case reportThe patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.ConclusionsThis is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.

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Genetics of vesicoureteral reflux

Cited by 35 publications

References 145 publications

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

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