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Vas deferens anomalies in paediatric age
S Campagnola1, L Fasoli, P Flessati
1Dipartimento di Scienze Chirurgiche, Università degli Studi, Verona.
Insights
Vas deferens anomalies are rare in the general population but common in cystic fibrosis patients. Evaluation for cystic fibrosis and renal abnormalities is recommended for all patients with vas deferens anomalies.
Area of Science:
- Medical Genetics
- Urology
- Pediatrics
Background:
- Vas deferens anomalies are rare (<0.05% incidence) in the general population.
- These anomalies are frequently observed in patients with cystic fibrosis.
- Vas deferens anomalies can be associated with renal abnormalities or indicate mild cystic fibrosis.
Purpose of the Study:
- To investigate the association between vas deferens anomalies and cystic fibrosis or renal abnormalities.
- To determine the optimal diagnostic pathway for patients presenting with vas deferens anomalies.
Main Methods:
- Case series analysis of 7 patients with 10 vas deferens anomalies.
- Clinical evaluation including cystic fibrosis screening and renal ultrasound.
- Genetic investigations for patients without evident cystic fibrosis or renal anomalies.
Main Results:
- Two patients had cystic fibrosis; three had urinary tract anomalies.
- Two patients had vas deferens anomalies without cystic fibrosis or renal issues.
- The study highlights the link between vas deferens anomalies and underlying conditions.
Conclusions:
- Patients with vas deferens anomalies require thorough evaluation for cystic fibrosis.
- Renal ultrasound is recommended for patients with vas deferens anomalies and no cystic fibrosis.
- Genetic testing is advised for those without cystic fibrosis or renal anomalies to rule out mild CF.
Abstract:
Vas deferens anomalies have been observed with high incidence in cystic fibrosis patients, whereas the overall incidence in the general population is estimated less than 0.05%. Vas deferens anomalies are sometimes associated with renal abnormalities and they are due to a damage occurring within the first weeks of gestational age. In other cases they can be the expression of a mild form of cystic fibrosis. The authors report on 7 patients with 10 anomalies of vas deferens: 2 patients with cystic fibrosis; 3 patients with urinary tract anomalies; 2 patients with no evidence of cystic fibrosis and without urinary tract anomalies. It is suggested that every patient presenting with vas deferens anomalies and no evidence of cystic fibrosis should be further evaluated with renal ultrasound; moreover all patients without evidence of both cystic fibrosis and renal anomalies should have genetic investigations.