非典型CFTR基因突变的先天性双侧输精管缺如致不育:2例个案报道与文献复习

Atypical CFTR gene mutation associated with congenital bilateral absence of the vas deferens cause infertility:two cases report and literature review

目的探讨拟行辅助生殖技术(ART)的非典型囊性纤维化跨膜传导调节因子(CFTR)基因突变的先天性双侧输精管缺如(CBAVD)患者的诊断与治疗。方法回顾分析2例非典型CFTR基因突变的双侧输精管缺如致不育病例行体外受精(IVF)时的诊治经过并进行文献复习。结果 2例患者在男科查体时因双侧输精管未触及而进一步对2对夫妇行CFTR基因检测,2例患者在CFTR编码区各发现1个杂合型突变,分别为C.263T>G、C.869+5G>A,女方均未检测到突变。经遗传咨询并充分告知夫妇双方相应风险后对该夫妇采取经皮附睾精子抽吸(percutaneous epididymal sperm aspiration,PESA)+卵胞质内单精子注射(intracytoplasmic sperm injection,ICSI)助孕。结论因囊性纤维化(cysticfibrosis,CF)是一种可致死性遗传病,故夫妇双方都应行CFTR基因检测。在进行遗传咨询时应充分考虑CFTR突变类型多样且临床表型多变等特点以协助患者做出利于子代安全的选择。

Objective To disuss diagnosis and treatment of the patients undergoing assisted reproductive technology （ART） who had atypical cystic fibrosis transmembrane conductance regulator （CFTR） gene mutation associated with congenital bilateral absence of the vas deferens （CBAVD）. Methods A retrospective clinical study and literature review were performed to analyze 2 cases with atypical CFTR gene mutation associated with CBAVD. Results After congenital bilateral absence of the vas deferens was diagnosed with impalpable scrotal vas by physical examination, CFTR mutation was detected on the 2 couple patients. In CFTR coding region, 2 patients had each heterogeneous mutation： C.263T〉G, C.869＋5G〉A, no mutation was detected in their wives. After genetic counseling and full disclosure of all risk to these couples, we offered percutaneous epididymal sperm aspiration （PESA）＋intracytoplasmic sperm injection （ICSI） for them. Conclusion Accounting for that cystic fibrosis （CF） disease is lethal genetic disease, both spouses should receive CFTR mutation screening. The variability of CFTR mutation type and clinical significance should be taken into full consideration when we do genetic counseling to help couples make choice which be beneficial to the security of their offspring.