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Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait

Mitra Naseri1, Gian Marco Ghiggeri, Gianluca Caridi

  • 1Pediatric Nephrology Department, Dr Sheikh Children's Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. mtr_naseri2006@yahoo.com

Pediatric Nephrology (Berlin, Germany)
|August 26, 2009
PubMed

Insights

Vesico-ureteric reflux (VUR), a common inherited disorder, may follow an X-dominant inheritance pattern. This study identified VUR in a father and his daughters, suggesting a potential new mode of familial transmission.

Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Vesico-ureteric reflux (VUR) is a frequent congenital anomaly with a significant familial recurrence rate (27-40%).
  • The precise mode of inheritance for VUR remains incompletely understood, complicating genetic counseling and risk assessment.
  • End-stage renal failure (ESRF) in a young patient prompted investigation into familial VUR patterns.

Observation:

  • Screening of parents and siblings of a 13-year-old girl with reflux nephropathy revealed VUR in her father and three sisters.
  • Affected family members, including the father and two sisters with renal scarring, had no history of urinary tract infections.
  • Haplotype analysis confirmed paternity, supporting the observed inheritance pattern.

Findings:

  • Vesico-ureteric reflux was identified in multiple family members, consistent with a genetic predisposition.
  • Renal scarring, a complication of VUR, was present in the affected father and two sisters.
  • The inheritance pattern observed in this family aligns with an X-dominant trait, a novel finding for familial VUR.

Implications:

  • This study suggests that VUR may be inherited in an X-dominant manner, expanding the known genetic mechanisms of this condition.
  • Recognizing an X-dominant inheritance pattern is crucial for accurate genetic counseling and early detection in at-risk families.
  • Future research should investigate the prevalence of X-dominant inheritance in familial VUR cohorts.

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