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

发布时间：2018-03-02 10:36

本文关键词： 非典型CFTR基因突变双侧输精管缺如(CBAVD) 遗传咨询　出处：《中华生殖与避孕杂志》2017年04期 　论文类型：期刊论文

【摘要】：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.263TG、C.869+5GA,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。
[Abstract]:Objective to investigate the diagnosis and treatment of atypical cystic fibrosis with transmembrane conduction regulator (CFT) gene mutation in patients with congenital bilateral ductus deferens (AVDs). Methods two cases of atypical CFTR gene were retrospectively analyzed. The diagnosis and treatment of IVF in patients with sterility caused by mutant bilateral vas deferens were reviewed and the literature was reviewed. Results two couples were further treated with CFTR gene because bilateral vas deferens were not touched at the time of body examination. One heterozygous mutation was found in each of the two patients in the CFTR coding region. No mutation was detected in the two groups. After genetic counseling and sufficient informing the couple of the corresponding risks, the couple was treated with percutaneous epididymal sperm aspiration epididymal sperm aspiration sperm injection (ICSI). Conclusion\\\; Cystic fibrosis (CFS) is a fatal hereditary disease. Therefore, both couples should be tested for CFTR gene. In order to help patients make safe choice for offspring, we should take full account of the diversity of CFTR mutation types and clinical phenotypic variability in genetic counseling.
【作者单位】：天津市第一中心医院;
【分类号】：R698.2

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