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

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

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296627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4864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_90 insC、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。

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.