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.
Abstract

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