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Published on: October 12, 2017
Prevalence of duplex collecting systems in familial vesicoureteral reflux
Manuela Hunziker1, Nochiparambil Mohanan, Maria Menezes
1National Children's Hospital, Dublin, Ireland.
Insights
Families with only boys affected by vesicoureteral reflux (VUR) show a higher prevalence of duplex collecting systems. This finding is important for understanding VUR inheritance and for genetic counseling.
Area of Science:
- Pediatric Urology
- Genetics
- Congenital Anomalies
Background:
- Duplication of the ureter and renal pelvis is a common congenital anomaly of the upper urinary tract in children.
- Vesicoureteral reflux (VUR) has a recognized familial pattern, with high recurrence rates in siblings and offspring.
- While VUR is associated with renal duplex systems, their prevalence in familial VUR is not well-established.
Purpose of the Study:
- To investigate the prevalence and significance of duplex collecting systems in families with VUR.
- To determine if there are differences in duplex system prevalence based on the sex distribution of affected individuals within families.
Main Methods:
- A cohort of 237 families with index patients diagnosed with grade III-V VUR was studied between 1998 and 2009.
- Siblings under 6 years old were screened for VUR, identifying a total of 513 affected children.
- Families were categorized into three groups based on the sex of affected children: boys only, girls only, and both sexes.
Main Results:
- Duplex collecting systems were identified in 7.6% of the VUR patients.
- The prevalence of duplex systems was significantly higher in families with exclusively affected boys (15%) compared to families with exclusively affected girls (6%) or both sexes (6.4%).
- Boys in families with exclusively affected boys had a higher prevalence of duplex systems (15%) than boys in families with both sexes affected (4%). Patients with duplex systems also had a higher grade of VUR.
Conclusions:
- Families with exclusively male VUR cases exhibit a greater prevalence of duplex collecting systems.
- These findings have implications for genetic counseling and the genetic modeling of VUR inheritance patterns.
Purpose:
Duplication of the ureter and renal pelvis is the most common upper urinary tract anomaly in childhood with a reported incidence of 0.8%. Familial nature of vesicoureteral reflux (VUR) is well recognized with a prevalence of 27-51% in siblings of children with VUR and 66% rate of VUR in offsprings of parents with previously diagnosed VUR. Although VUR is known to be the most common abnormality associated with renal duplex systems, the prevalence and significance of renal duplication in familial VUR is not known. The aim of this study was to determine the prevalence and significance of duplex collecting systems in familial VUR.
Methods:
Between 1998 and 2009, the parents of 237 index patients with grade III-V VUR were asked permission to screen siblings younger than 6 years old for VUR. A total of 513 children in 237 families were identified to have VUR (237 index patients, 276 siblings). Families were divided into three groups: Group I, families with only boys affected Group II, families with only girls affected and Group III, families with boys and girls affected.
Results:
In 39 families (16.5%) only boys had VUR (Group I), in 89 families (37.5%) only girls had VUR (Group II) and in 109 families (46%) boys and girls were affected (Group III). Duplex collecting systems were present in 39 (7.6%) patients. The prevalence of duplex systems was significantly higher in Group I (15%) compared to Group II (6%) and Group III (6.4%), (p < 0.01). Duplex systems were present in 15% of boys in Group I and only in 4% of boys in Group III (p < 0.01). Patients with duplex systems had a significantly higher grade of VUR than patients without duplex systems (p < 0.01).
Conclusion:
Families with exclusively boys affected with VUR have a higher rate of prevalence of duplex collecting systems. This has implications for genetic counseling and for modeling the inheritance of VUR.
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