Casals T, Bassas L, Egozcue S, Ramos M D, Giménez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Barcelona, Spain.
Hum Reprod. 2000 Jul;15(7):1476-83. doi: 10.1093/humrep/15.7.1476.
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 association with renal agenesis appear to have a different aetiology to those with isolated CAVD. We have studied 134 Spanish CAVD patients [110 congenital 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 cystic fibrosis or in the general Spanish population. CFTR mutations were detected 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 increased in CAVD patients, as well as nasal pathology and frequent respiratory infections. This study confirms the molecular heterogeneity of CFTR mutations in CAVD, and emphasizes the importance of an extensive CFTR analysis in these patients. In contrast with previous studies, this report suggests that CFTR might have a role in urogenital anomalies.
先天性输精管缺如（CAVD）是一种异质性疾病，主要归因于囊性纤维化（CFTR）基因突变。单侧输精管缺如（CUAVD）患者以及伴有肾缺如的CAVD患者，其病因似乎与孤立性CAVD患者不同。我们研究了134例西班牙CAVD患者[110例先天性双侧输精管缺如（CBAVD）和24例CUAVD]，其中16例（6例CBAVD，10例CUAVD）有额外的肾脏异常。鉴定出42种不同的CFTR突变，其中7种是新发现的。约45%的CFTR突变是CAVD特有的，在囊性纤维化患者或西班牙普通人群中未发现。85%的CBAVD患者和38%的CUAVD患者检测到CFTR突变。在那些有肾脏异常的患者中，31%携带一种CFTR突变。精囊和射精管异常在CAVD患者中很常见。CAVD患者中隐睾症和腹股沟疝的患病率似乎增加，鼻病和频繁的呼吸道感染也是如此。本研究证实了CAVD中CFTR突变的分子异质性，并强调了对这些患者进行广泛CFTR分析的重要性。与先前的研究不同，本报告表明CFTR可能在泌尿生殖系统异常中起作用。
