海南省少数民族自治市县原发性肉碱缺乏症筛查分析  

The screening and genetic analysis of primary carnitine deficiency in the minority municipalities in Hainan Province

作　　者：赵振东[1] 王洁[1] 谢曼芳 黄慈丹 Zhao Zhendong;Wang Jie;Xie Manfang;Huang Cidan(Neonatal Screening Center of Hainan Maternal and Child Health Care Hospital, Haikou 570206, China)

机构地区：[1]海南省妇幼保健院新生儿疾病筛查中心,海口570206

出　　处：《中华检验医学杂志》2019年第4期293-296,共4页Chinese Journal of Laboratory Medicine

基　　金：海南省重大科技项目基金(ZDKJ2017007);海南省医药卫生科研项目基金(18A200167)。

摘　　要：目的调查海南省所有8个少数民族自治市县(昌江、乐东、东方、保亭、白沙、琼中、五指山和陵水)新生儿原发性肉碱缺乏症(PCD)发病情况。方法收集2017年8月1日至2018年7月31日在海南省8个少数民族自治市县出生18701例新生儿滤纸干血片样本,其中男婴10051例,女婴8650例。采用串联质谱技术,使用PE公司生产的非衍生化多种氨基酸、肉碱和琥珀酰丙酮测定试剂盒,对游离肉碱(C0)和酰基肉碱(C2、C3、C16、C18等指标)展开检测,初筛C0低于10μmol/L者母婴召回一同复查肉碱谱,仍低者送血标本至北京迈基诺基因做基因诊断,送尿标本至广州金域检测尿气相质谱。结果18701例新生儿当中确诊原发性肉碱缺乏症5例,新生儿原发性肉碱缺乏症发病率为2.67/10000(5/18701),通过基因检测确诊2例黎族基因突变c.388GA,2例汉族为P.R254X和1例苗族P.Y84N。确诊患儿均得到左卡尼丁治疗,避免了代谢失常或心肌和骨骼肌受损。结论海南省所有8个少数民族市县新生儿PCD发病率高,新生儿原发性肉碱缺乏症黎族和汉族突变位点不同,串联质谱筛查PCD能保障出生人口素质。Objective To investigate the incidence of neonatal carnitine deficiency (PCD) in eight minority autonomous cities and counties in Hainan Province (Changjiang, Ledong, Dongfang, Baoting, Baisha, Qiongzhong, Wuzhishan and Lingshui). Methods A total of 18,701 cases of newborn filter paper dried blood samples were collected from August 1, 2017 to July 31, 2018 in eight minority autonomous cities and counties in Hainan Province, including 10 051 male infants and 8 650 female infants. Tandem mass spectrometry and the non-derivatized multi-amino acid, carnitine and succinylacetone assay kits produced by PE were used to detect free carnitine (C0) and acylcarnitine (C2, C3, C16, C18, etc.).The carnitine spectrum was reexamined with the recall of mothers and infants whose C0 was less than 10 μmol/L. Blood samples from those who were still low were sent to the Beijing McKinnon gene for genetic diagnosis, and the urine samples were sent to the Guangzhou Golden Field for urine gas chromatography. Results Among the 18 701 newborns, 5 cases were diagnosed with PCD. The incidence of neonatal PCD was 2.67/10 000 (5/18 701). Two cases of Li mutation c.388GA, two cases of Han mutation P.R254X and one case of Miao mutation P. Y84N were confirmed by gene detection. The confirmed children were treated with L-carnitine to avoid metabolic disorders or myocardial and skeletal muscle damage. Conclusions The incidence of neonatal PCD is high in eight cities and counties in Hainan Province. The mutation sites of neonatal PCD are different in Li and Han. The tandem mass spectrometry screening of PCD can guarantee the quality of the birth population.

关 键 词：肉碱 肌疾病 心肌疾病 高氨血症 新生儿筛查 串联质谱法 

分 类 号：R722.1[医药卫生—儿科] R440[医药卫生—临床医学]