ArticlePediatric nephrology (Berlin, Germany)2010
Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- Association of Genetic Polymorphisms inIranian journal of public health · 2020Article
- Genetics of Vesicoureteral Reflux.Current genomics · 2016Article
- Next-generation sequencing for research and diagnostics in kidney disease.Nature reviews. Nephrology · 2014Review
- 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.Molecular genetics & genomic medicine · 2014Article
- Genetics of vesicoureteral reflux.Nature reviews. Urology · 2011Review
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Vesico-ureteric reflux (VUR) is one the most common inherited disorder in humans. Even though this defect is common among siblings and parents of index patients (27-40%), the mode of inheritance is not well defined. Parents and siblings (three female and two male) of a 13-year-old girl with end-stage renal failure (ESRF) due to reflux nephropathy were screened for VUR although they had not presented episodes of urinary tract infection. VUR was identified in the father (44 years old) and in all the three sisters (aged 15 years, 16 years and 18 years) while the two brothers (aged 5 years and 8 years) had normal renal ultrasonograms and cystograms. A technetium-99m di-mercapto-succinic acid ((99m)Tc-DMSA) scan demonstrated renal scars in the father and in two of the sisters with VUR. No episodes of urinary infection had been documented for any relatives. Haplotype analysis on the X-chromosome confirmed paternity. This is the first description of VUR compatible with an X-dominant trait. This mode of inheritance must be added to what is already known on familial VUR, and future studies should also consider this possibility.
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