Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. Patients with unilateral absence of the vas deferens (CUAVD) and patients with CAVD in as sociation with renal agenesis appear to have a different aetiology to those with isolated CAVD, We have studied 134 Spanish CAVD patients [110 congeni tal bilateral absence of the vas deferens (CBAVD) and 24 CUAVD], 16 of whom (six CBAVD, 10 CUAVD) had additional renal anomalies, Forty-two different CFTR mutations were identified, seven of them being novel. Some 45% of the CFTR mutations were specific to CAVD, and were not found in patients with c ystic fibrosis or in the general Spanish population. CFTR mutations were de tected in 85% of CBAVD patients and in 38% of those with CUAVD, Among those patients with renal anomalies, 31% carried one CFTR mutation. Anomalies in seminal vesicles and ejaculatory ducts were common in patients with CAVD, The prevalence of cryptorchidism and inguinal hernia appeared to be increas ed in CAVD patients, as well as nasal pathology and frequent respiratory in fections. This study confirms the molecular heterogeneity of CFTR mutations in CAVD, and emphasizes the importance of an extensive CFTR analysis in th ese patients. in contrast with previous studies, this report suggests that CFTR might have a role in urogenital anomalies.