摘要
目的分析湖南省串联质谱新生儿遗传代谢病筛查情况、基因突变特点及随访结果。方法采集2013年3月至2017年9月湖南省565182例活产新生儿足底血,采用非衍生化串联质谱法,开展氨基酸(AAs)、有机酸(OAs)、脂肪酸β氧化代谢障碍疾病(FAODs)新生儿筛查。筛查阳性患儿召回复查,确诊患儿进行相应治疗并随访。结果确诊遗传代谢病(IMDs)107例,总发病率为1∶5282,其中FAODs 65例(1∶8695),AAs 29例(1∶19489),OAs 13例(1∶43476)。排前4位的IMDs为原发肉碱缺乏症(PCD)(44例)、高苯丙氨酸血症(HPA)(17例)、短链酰基辅酶A脱氢酶缺乏症(SCADD)(12例)和希特林蛋白缺乏症(NICCD)(6例),其他疾病少见。PCD相关SLC22A5基因热点突变c.51C>G(25.3%)、c.1400C>G(23.0%)、c.760C>T(13.8%);HPA相关PAH基因热点突变c.728G>A(22.2%)、c.721C>T(14.8%);SCADD相关ACADS基因热点突变c.1031A>G(38.9%);NICCD相关SLC25A13基因热点突c.851_854delGTAT(50.0%)。其他IMDs例数少,热点突变暂不明确。107例患儿随访(26.1±5.6)个月,7例死亡,4例智力发育落后,余96例生长发育正常。结论湖南省IMDs不罕见,早筛查、早干预可改善患儿预后。
Objective To investigate the prevalence,mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD)by using tandem mass spectrometry screening.Methods In Hunan province,565182 newborns who underwent tandem mass spectrometry(MS/MS)screening for IMDs were studied,including fatty acid oxidation disorders(FAODs),amino acid disorders(AAs),and organic acidemias(OAs)between March 2013 and September 2017.For the patients with positive results,a recall screening test was performed,and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD,guideline-directed medical treatment was administrated,and the follow-up outcomes was evaluated.Results A total of 107 newborns were diagnosed with IMDs,with an overall prevalence of 1∶5282,including 65 newborns with FAODs(1∶8695),29 newborns with AAs(1∶19489),and 13 newborns with OAs(1∶43476).The primary carnitine deficiency(PCD)(44 cases),hyperphenylalaninemia(HPA)(17 cases),short-chain acyl-CoA dehydrogenase deficiency(SCADD)(12 cases),citrine deficiency(NICCD)(6 cases)were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c.51C>G(25.3%),c.1400C>G(23.0%),and c.760C>T(13.8%);in PAH gene of HPA were c.728G>A(22.2%)and c.721C>T(14.8%);in ACADS gene of SCADD was c.1031A>G(38.9%);and in SLC25A13 gene of NICCD was c.851_854delGTAT(50.0%),respectively.The remaining IMDs were rare,and the hotspot mutations were unclear right now.During a mean follow-up of(26.1±5.6)months,7 patients died,4 patients suffered an intelligent disability,whereas the remaining 96 subjects had normal physical and intelligent development.Conclusions The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
作者
鄢慧明
贾政军
刘静
张杨慧
唐华
席惠
陈静
方俊群
谢冬华
王华
Yan Huiming;Jia Zhengjun;Liu Jing;Zhang Yanghui;Tang Hua;Xi Hui;Chen Jing;Fang Junqun;Xie Donghua;Wang Hua(Department of Genetic Medicine,the Maternal and Child Health Hospital of Hunan Province,Changsha 410008,China;Department of Health Care,the Maternal and Child Health Hospital of Hunan Province,Changsha 410008,China;Department of Information,the Maternal and Child Health Hospital of Hunan Province,Changsha 410008,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2019年第20期1541-1545,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
湖南省自然科学基金(2017JJ3142)。
关键词
串联质谱
新生儿疾病筛查
遗传代谢病
预后
Tandem mass spectrometry
Newborn screening
Inherited metabolic disease
Outcomes
作者简介
通信作者:王华,Email:wanghua213@aliyun.com。
