| 引用本文: | 胡勤,何艺,叶强,金朝.自贡地区24384例新生儿短链酰基辅酶 A 脱氢酶缺乏症筛查及确诊结果分析[J].中国临床新医学,0,():-. |
| Hu Qin,He Yi,Ye Qiang,Jin Chao.自贡地区24384例新生儿短链酰基辅酶 A 脱氢酶缺乏症筛查及确诊结果分析[J].中国临床新医学,0,():-. |
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| 摘要: |
| 目的 分析自贡市新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)的发病率,探讨患儿的临床特征及基因突变特点。方法 应用串联质谱技术检测出生72h后经充分哺乳的新生儿酰基肉碱水平,初筛及复查阳性者通过尿有机酸分析及高精准度二代测序技术(NGS)以明确诊断。结果 自贡市2018年3月-2021年2月共筛查新生儿24384例,其中男性12713例,女性11671例,初筛阳性儿15例,初筛阳性率为0.062%；确诊SCADD患儿1例,SCADD发病率为1/24384；患儿临床表现无明显异常,串联质谱检测显示血丁酰基肉碱( C4) 及其与乙酰肉碱( C2) 、丙酰肉碱( C3) 比值均增高。对该家系进行代谢病基因测序：发现患儿发生2种 ACADS 基因突变,1种为已知突变 c. 1031A＞G,1种未报道突变 c. 293A＞ G,同时发生了SLC22A5基因c. 428C＞T突变。ACADS 基因c. 293A＞ G与SLC22A5基因c. 428C＞T突变来源于其父亲,ACADS 基因 c. 1031A＞G突变来源于其母亲,两种已知突变都为致病突变。患儿每日服用左卡尼汀和维生素B2,月余后对患儿进行饮食指导,随访均未出现临床症状,体格及智力发育正常。结论 自贡市SCADD发病率为1/24384,明显高于我国其他地区。SCADD患儿早期确诊,有效地为后续的临床治疗和遗传咨询提供依据。 |
| 关键词: 短链酰基辅酶A脱氢酶缺乏症 遗传代谢病 自贡市 |
| DOI： |
| 分类号:R722；R394 |
| 基金项目:自贡市科技局重点项目 |
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| Screening and diagnosis results analysis of 24384 newborns with short-chain acyl-CoA dehydrogenase deficiency in Zigong |
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Hu Qin, He Yi, Ye Qiang, Jin Chao
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Department of Clinical Laboratory,Zigong City Maternal and Child Health Hospital,Zigong
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| Abstract: |
| : Objective To analyze the incidence of short-chain acyl-CoA dehydrogenase deficiency (SCADD) in newborns in Zigong City, and to explore the clinical characteristics and gene mutation characteristics of the children. Methods Tandem mass spectrometry was used to detect the level of acylcarnitine in fully breastfed newborns 72 hours after birth. Those who were positive in the initial screening and re-examination were analyzed by urine organic acid analysis and high-precision next-generation sequencing (NGS) to confirm the diagnosis. Results A total of 24384 newborns were screened in Zigong City from March 2018 to February 2021, of which 12,713 were males and 11,671 were females. 15 cases were initially positive, and the initial positive rate was 0.062%; 1 child with SCADD was diagnosed The incidence of SCADD was 1/24384; the clinical manifestations of the children were not significantly abnormal. Tandem mass spectrometry showed that the blood butyrylcarnitine (C4) and the ratios of blood butyrylcarnitine (C4) and acetylcarnitine (C2) and propionylcarnitine (C3) were all increased. Gene sequencing of metabolic diseases in this family: it was found that the child had two ACADS gene mutations, one with known mutation c. 1031A>G, one unreported mutation c.293A>G, and SLC22A5 gene c.428C occurred at the same time. >T mutation. ACADS gene c. 293A> G and SLC22A5 gene c. 428C>T mutations were derived from his father, and ACADS gene c. 1031A>G mutations were derived from his mother. Both known mutations are pathogenic mutations. The child took L-carnitine and vitamin B2 daily. After more than a month, the child was given dietary guidance. The follow-up showed no clinical symptoms, and the physical and mental development were normal. Conclusion The incidence of SCADD in Zigong City is 1/24384, which is significantly higher than other regions in my country. Early diagnosis of SCADD children can effectively provide a basis for follow-up clinical treatment and genetic counseling. |
| Key words: : Short-chain acyl-CoA dehydrogenase deficiency genetic metabolic disease Zigong City |
