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Congenital ureteroceles: an indication for screening?
1Department of Diagnostic Radiology, University Hospital Center, CH-1011 Lausanne, Switzerland.
Insights
Ureteroceles in children can cause urinary obstruction and stones. This study highlights a genetic link, suggesting siblings of affected children may need screening for related urinary tract malformations.
Area of Science:
- Pediatric Urology
- Medical Genetics
- Congenital Abnormalities
Background:
- Ureteroceles are congenital abnormalities of the ureter, often presenting in pediatric patients.
- Clinical manifestations include urinary tract obstruction and nephrolithiasis (kidney stones).
Observation:
- Two pairs of twins were analyzed, with discordant presentations of ureteroceles and related urogenital malformations.
- One twin in each pair presented with ureteroceles, while the sibling had other urinary tract anomalies, including polycystic kidney disease.
Findings:
- The co-occurrence of ureteroceles and other urogenital malformations in twins suggests a potential genetic predisposition.
- These findings indicate a possible hereditary component in the etiology of ureteroceles and associated anomalies.
Implications:
- The study raises critical questions regarding the necessity of screening siblings of pediatric patients diagnosed with ureteroceles.
- Early screening can facilitate timely diagnosis and management of potential urogenital abnormalities in at-risk siblings.
Abstract:
In the pediatric population, ureteroceles may present with different clinical pictures, including obstruction and lithiasis. We report two pairs of twins; one of each set had ureteroceles, and the other a related urinary tract malformation (ureterocele, polycystic kidney disease). These cases raise the question of whether the siblings of children with ureteroceles should be screened for urogenital abnormalities.