先天性输精管缺如患者的临床与遗传特点:附41例报道  

Clinical and genetic features of congenital absence of the vas deferens:41 cases report

作　　者：李湘平[1,2,3,4] 智二磊[1,2,3,4] 陈慧兴[1,2,3,4] 李朋[1,2,3,4] 李铮[1,2,3,4] 

机构地区：[1]上海交通大学附属第一人民医院泌尿外科中心男科/盆底尿失禁外科 [2]辅助生殖医学科 [3]上海交通大学泌尿外科研究所男性健康评估中心 [4]上海市生殖医学重点实验室,200080

出　　处：《中华生殖与避孕杂志》2017年第4期276-281,共6页Chinese Journal of Reproduction and Contraception

基　　金：上海市市级医院新兴前沿技术联合攻关项目(SHDC12015122);国家863计划子课题(2015AA020404);国家自然基金面上项目(81671512)~~

摘　　要：目的探讨先天性输精管缺如(CAVD)者的临床特点,分析囊性纤维跨膜转运调节因子(CFTR)国内外已知高频突变位点5T剪接变体(IVS8-5T)和F508位点遗传突变特征,旨在建立CAVD的诊治策略。方法收集41例CAVD病例临床资料,总结其分型、诊断和治疗特点,从21例患者血样中提取基因组DNA,利用聚合酶链反应(PCR)扩增5T和F508位点片段,并直接测序。结果 41例患者中20例双侧缺如患者,14例节段性缺如,7例单侧缺如。40例患者通过外科取精方式获取精子,1例取精失败患者睾丸组织病理为生精阻滞,总体取精成功率约97.6%(40/41);4例单侧缺如患者要求行对侧输精管-附睾吻合术或交叉吻合术,术后随访精液1~6个月无精子;12例取精后行卵胞质内单精子注射(ICSI),7例成功生育,2例正常妊娠中(4~8个月)。21例测序显示9例存在5T位点突变(42.9%),未见F508位点突变。结论 CAVD需综合查体、检验和超声等影像资料诊断;取精结合ICSI的辅助生殖技术(ART)是CAVD有效的治疗手段;汉族CAVD患者近半数存在5T剪接变体突变,未见白人高加索人存在的ΔF508del突变。Objective To investigate the diagnostic and therapeutic strategies of congenital absence of the vas deferens （CAVD） and the cystic fibrosis transmembrane conductance regulator （CFTR） mutations in the Chinese Hart patients. Methods Forty-one cases of CAVD were recruited and analyzed. Genomic DNA from 21 patients＇ blood samples was extracted. 5T and F508 alleles polymophyism were detected by potymerase chain reaction （PCR）, and the PCR products were sequenced. Results Twenty cases of CAVD were congenital bilateral absence of the vas deferens （CBAVD）, while 14 were congenital bilateral partial aplasia of the vas deferens （CPAVD） and 7 were congenital bilateral partial aplasia of the vas deferens （CUAVD）. Forty patients obtained sperm by epididymal fluid, testicular biopsy or M-TESE, while 1 failed in sperm extraction was diagnosed as spermatogenic maturation arrest by testicular biopsy. Four CUAVD patients who had strong demand of natural pregnancy underwent micro-vasoepididymostomy （VE） or transseptal crossover VE treatments, all of which found no sperm after 1-6 months follow-up. Twelve cases were treated with ICSI, 7 of which fathered their children, and 2 wives of which were pregnant. About 42.9% （9/21） patients were detected 5T allele in the polythymidine tract of intron 8, while delta F508del mutation was not detected in any patients. Conclusion The combination of clinical features, laboratory tests, ultrasound and other imaging examinations was crucial to diagnose CAVD. Sperm retrieval combined with ICSI was an efficient approach for CAVD. 5T allele mutation was observed in almost half of Chinese Han patients with CAVD. Delta F508del mutation which was common in Caucasian patients was not found.

关 键 词：先天性输精管缺如(cAVD) 输精管附睾吻合术(VE) 辅助生殖技术(ART) 囊性纤维化转运调节因子(CFTR) 

分 类 号：R698.2[医药卫生—泌尿科学]