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Unravelling the genetics of vesicoureteric reflux: a common familial disorder
M R Eccles1, R R Bailey, G D Abbott
1Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Insights
Primary vesicoureteric reflux (VUR) is a common genetic disorder affecting children, causing urine to flow back to the kidneys. Identifying the genetic cause is crucial for early detection and preventing kidney damage.
Area of Science:
- Genetics
- Pediatrics
- Nephrology
Background:
- Primary vesicoureteric reflux (VUR) is a common genetic disorder in children.
- It involves urine regurgitation from the bladder to the kidneys, often linked to urinary tract infections.
- Untreated VUR can lead to hypertension, proteinuria, and end-stage renal failure.
Purpose of the Study:
- To explore the genetic basis of primary VUR.
- To highlight the importance of genetic screening for early detection and prevention of kidney damage.
- To discuss the potential role of the PAX2 gene developmental pathway in VUR.
Main Methods:
- Review of existing family studies and genetic research on VUR.
- Analysis of the association between VUR and other genetic syndromes like coloboma-ureteric-renal syndrome.
- Examination of the VUR phenotype and its genetic underpinnings.
Main Results:
- VUR is a common genetic disorder with a significant familial recurrence risk.
- The exact inheritance pattern of VUR is still under investigation.
- Mutations in the developmental pathway involving the PAX2 gene are suggested as a potential cause for VUR.
Conclusions:
- Early detection of VUR is essential to prevent severe kidney damage.
- Identifying the genetic cause of VUR will facilitate genetic screening and early diagnosis.
- Further research into the genetic pathways, including PAX2, is needed to understand and manage VUR.
Abstract:
Primary vesicoureteric reflux (VUR) is one of the more common genetic disorders. Little is yet known about the genetics of this potentially manageable childhood condition, which is characterised by regurgitation of urine from the bladder to the kidney. The VUR phenotype is associated with shortness of the submucosal segment of the ureter due to congenital lateral ectopia of the ureteric orifice. VUR is found in 30-50% of infants and young children with a urinary tract infection. A serious concern in families with an affected patient is that approximately one half of siblings or offspring will be affected, but up to a half of these affected siblings and offspring may be asymptomatic in childhood. If left untreated, these patients may present later in life with proteinuria, hypertension or renal failure. VUR is the commonest cause of end-stage renal failure in children, and an important cause in adults. As the kidney damage resulting from severe VUR is preventable, early detection is desirable. The techniques for clinical diagnosis are invasive and costly, reinforcing the importance of identification of a gene for VUR to facilitate genetic screening. Although family studies suggest a major dominant gene, the inheritance pattern is still a matter of debate. In rare instances, VUR occurs in association with other diseases, such as the coloboma-ureteric-renal syndrome, which is caused by a PAX2 gene mutation. In this review, we present evidence that this common disorder may be caused by mutations in the developmental pathway of which the PAX2 gene forms a part.