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夫妇均为CFTR基因I556V位点杂合突变行PESA-ICSI后分娩CFTR基因I556V位点纯合突变患儿一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Obstetrics and Gynecology
- Issue:
- 8
- DOI:
- 10.3760/cma.j.issn.0529-567x.2014.08.018
- Key Word:
- No keyword available
Abstract： 患者30岁,因婚后未育4年于2012年3月就诊于本院,月经规律,无痛经,自然周期未行排卵监测,未行输卵管检查.既往体健,妇科检查未发现异常.2012年行宫腔镜子宫内膜电切术,术后病理示子宫内膜息肉.内分泌实验室检查正常,染色体核型46,XX,9qh+;囊性纤维化跨膜传导调节因子(CFTR)基因检测为I556V位点杂合突变.男方29岁,两次精液检查诊断为无精子症,双侧附睾穿刺有精子;体格及第二性征发育正常,染色体核型46,XY;CFTR基因检测也为I556V位点杂合突变.因男方为梗阻性无精子症,后行经皮附睾穿刺取精术(PESA)结合卵母细胞胞质内单精子注射法(ICSI)治疗后单胎妊娠,B超检查见孕囊和原始心管搏动.患者夫妇未要求行胚胎植入前遗传学诊断(PGD);因宫缩剧烈,孕中期也未行羊水或脐血CFTR基因检测.2013年5月26日,阴道分娩一表型正常女婴;7月23日因咳嗽6d患儿住院,入院后以“支气管肺炎”予抗感染、抗病毒、化痰止咳等治疗;行CFTR基因突变检测,结果报告:CFTR基因I556V位点纯合突变,即I556V位点三联密码子第1位核苷酸A突变为G,导致此位点编码的氨基酸由异亮氨酸Ile (ATT)突变为缬氨酸Val (GTT).产后4个月随访,患儿生长未见明显异常,未再出现肺炎症状.
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