新生儿筛查发现的原发性肉碱缺乏症临床与基因分析

发布时间：2018-08-20 08:57

【摘要】：目的探讨原发性肉碱缺乏症的临床和基因突变特点。方法回顾分析2013年12月—2016年12月以串联质谱技术新生儿筛查发现的6例原发性肉碱缺乏症及2例母源性肉碱缺乏患儿的临床资料。结果 8例患儿血游离肉碱初筛值为(5.85±1.65)μmol/L,召回复查值(5.22±1.02)μmol/L,其中6例原发性肉碱缺乏症患儿采用基于Ion Torrent半导体测序技术的遗传代谢病Panel进行基因诊断,均检测到2个等位基因致病性突变;口服左旋肉碱治疗后血游离肉碱(20.24±3.88)μmol/L,继续随访中;另2例母源性肉碱缺乏患儿混合喂养1周后血游离肉碱基本恢复正常,未进行基因诊断。结论采用串联质谱技术新生儿筛查及二代测序Panel可有效检出原发性肉碱缺乏症,早期规范治疗预后良好。
[Abstract]:Objective to investigate the clinical and gene mutation characteristics of primary carnitine deficiency. Methods the clinical data of 6 cases of primary carnitine deficiency and 2 cases of maternal carnitine deficiency diagnosed by tandem mass spectrometry between December 2013 and December 2016 were retrospectively analyzed. Results the primary screening value of serum free carnitine was (5.85 卤1.65) 渭 mol / L, the recall value was (5.22 卤1.02) 渭 mol / L, and 6 cases of primary carnitine deficiency were diagnosed by genetic metabolic disease (Panel) based on Ion Torrent semiconductor sequencing. After oral L-carnitine treatment, the serum free carnitine level was (20.24 卤3.88) 渭 mol / L, and the other 2 cases of maternal carnitine deficiency had returned to normal after 1 week of mixed feeding. Conclusion Primary carnitine deficiency can be detected effectively by tandem mass spectrometry screening and second generation sequencing Panel, and the early standardized treatment has a good prognosis.
【作者单位】：南京医科大学附属妇产医院遗传医学中心新生儿筛查室;
【基金】：国家自然科学基金(No.81541064,81671475) 南京市医学科技发展重点项目(No.ZKX14041)
【分类号】：R722.1

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