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Familial primary vesicoureteral reflux
Insights
Primary vesicoureteral reflux affects all children in two reported families. Investigating first-degree relatives is recommended to detect this common congenital kidney disease early and prevent renal failure.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Primary vesicoureteral reflux (VUR) is a congenital kidney lesion.
- Diagnosis often occurs late, after symptoms or end-stage renal disease develop.
- While often sporadic, genetic factors may play a role in some families.
Purpose of the Study:
- To report on two families with a high prevalence of primary VUR.
- To investigate the potential inheritance patterns of VUR.
- To emphasize the importance of early detection in relatives.
Main Methods:
- Clinical case reporting of two families with affected children.
- Parental examination for VUR.
- Review of diagnostic challenges and inheritance patterns.
Main Results:
- All children in both families had primary VUR.
- Mothers in one family also presented with unilateral reflux.
- The genetic basis is likely multifactorial, but dominant or recessive inheritance cannot be ruled out.
Conclusions:
- Primary VUR may have a familial component.
- Screening first-degree relatives of affected individuals is crucial.
- Early detection can prevent progressive renal damage and renal failure.
Abstract:
Two families with all children affected by primary vesicoureteral reflux are reported. Both sets of parents were examined and only in one family the mother was also affected by unilateral reflux. This congenital lesion has only recently been recognized as a common disease, but because diagnosis depends on voiding cystography, it is not made until the child or adult becomes symptomatic or presents with end-stage renal disease. As most cases are sporadic, a multiple factorial mode of inheritance is most probable, but an autosomal dominant or recessive gene cannot be excluded as the cause of the disease in some families. It is recommended that all first degree relatives of the patients should be investigated, in order to detect asymptomatic cases of this condition, which is likely to cause progressive renal damage and may have fatal termination due to renal failure.