临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 687-.doi: 10.3969/j.issn.1000-3606.2020.09.011

• 综合报道 • 上一篇    

短链酰基辅酶A 脱氢酶缺乏症患儿临床特点及基因变异分析

王伟青, 李文杰, 宋东坡, 于春冬, 吕金峰, 陈艳萍   

  1. 青岛市妇女儿童医院新生儿筛查实验室(山东青岛 266000)
  • 发布日期:2020-09-17
  • 通讯作者: 陈艳萍 电子信箱:yoyo50804022@126.com

Clinical characteristics and gene variation of short-chain acyl-CoA dehydrogenase deficiency

 WANG Weiqing, LI Wenjie, SONG Dongpo, YU Chundong, LYU Jinfeng, CHEN Yanping   

  1. Neonatal Screening Laboratory, Qingdao Women and Children’s Hospital, Qingdao 266000, Shandong, China
  • Published:2020-09-17

摘要: 目的 探讨新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)基因型与表型的关系。方法 回顾分析2015年 至2018年,在青岛地区296 627例新生儿中筛查发现的7例SCADD患儿的临床资料。结果 研究期间初次筛查可疑阳性 人数为4 864例,初筛阳性率为0.16%;经基因检测确诊7例SCADD患儿,确诊阳性率为1/42375。 7例患儿中,男性4例、 女性3例,基因检测发现5种已知变异、 4种未知变异,分别为c.1029+89_90insC、c.1031A>G、c.1157G>A、c.164C>T和 c.989G>A,c.1130C>T、c.1186G>A、c.445A>T和c.949A>G。结论 SCADD基因型与血尿串联质谱筛查结果一致,但与 临床表型关系不明确,早期诊断和治疗有助改善预后。

关键词: 遗传代谢病; 短链酰基辅酶A脱氢酶缺乏症; 新生儿; 筛查

Abstract:  Objective To explore the relationship between genotype and phenotype of neonatal short-chain acyl-CoA dehydrogenase deficiency (SCADD). Method The clinical data of SCADD in 7 children discovered by screening 296627 newborns in Qingdao from 2015 to 2018 were retrospectively analyzed. Results During the study period, the number of suspected positive cases at the first screening was 4864, and the positive rate was 0.16%. Seven children were diagnosed with SCADD by genetic testing and the positive rate of diagnosis was 1/42375. Among the 7 children (4 males and 3 females), 5 known mutations including c.1029+89_90insC, c.1031A>G, c.1157G>A, c.164C>T and c.989G>A and 4 unknown mutations including c.1130C>T, c.1186G>A, c.445A>T and c.949A>G were detected by gene testing. Conclusions SCADD genotype and hematuria tandem mass spectrometry screening results were consistent, but the relationship between genotype and clinical phenotype was not clear. Early diagnosis and treatment can improve the prognosis.

Key words: genetic metabolic diseases; short-chain acyl-CoA dehydrogenase deficiency; neonate; screening