本文關(guān)鍵詞： 非典型CFTR基因突變 雙側(cè)輸精管缺如(CBAVD) 遺傳咨詢　出處：《中華生殖與避孕雜志》2017年04期 　論文類型：期刊論文

【摘要】：目的探討擬行輔助生殖技術(shù)(ART)的非典型囊性纖維化跨膜傳導(dǎo)調(diào)節(jié)因子(CFTR)基因突變的先天性雙側(cè)輸精管缺如(CBAVD)患者的診斷與治療。方法回顧分析2例非典型CFTR基因突變的雙側(cè)輸精管缺如致不育病例行體外受精(IVF)時(shí)的診治經(jīng)過并進(jìn)行文獻(xiàn)復(fù)習(xí)。結(jié)果 2例患者在男科查體時(shí)因雙側(cè)輸精管未觸及而進(jìn)一步對(duì)2對(duì)夫婦行CFTR基因檢測(cè),2例患者在CFTR編碼區(qū)各發(fā)現(xiàn)1個(gè)雜合型突變,分別為C.263TG、C.869+5GA,女方均未檢測(cè)到突變。經(jīng)遺傳咨詢并充分告知夫婦雙方相應(yīng)風(fēng)險(xiǎn)后對(duì)該夫婦采取經(jīng)皮附睪精子抽吸(percutaneous epididymal sperm aspiration,PESA)+卵胞質(zhì)內(nèi)單精子注射(intracytoplasmic sperm injection,ICSI)助孕。結(jié)論因囊性纖維化(cysticfibrosis,CF)是一種可致死性遺傳病,故夫婦雙方都應(yīng)行CFTR基因檢測(cè)。在進(jìn)行遺傳咨詢時(shí)應(yīng)充分考慮CFTR突變類型多樣且臨床表型多變等特點(diǎn)以協(xié)助患者做出利于子代安全的選擇。
[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.
【作者單位】： 天津市第一中心醫(yī)院;
【分類號(hào)】：R698.2

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