浙江省新生儿脂肪酸氧化代谢疾病筛查及随访分析

Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence,outcome and follow-up

目的:了解浙江省新生儿脂肪酸氧化代谢类疾病(FAOD)的患病率及预后。方法:收集2009年1月至2016年12月浙江省新生儿疾病筛查中心1 861 262名新生儿资料,采用串联质谱法进行血中游离肉碱和酰基肉碱水平筛查,筛查阳性者进一步通过尿有机酸及相关致病基因突变分析等方法确诊,并对确诊患儿的预后进行分析。结果:在1 861 262名新生儿中确诊七种共121例FAOD患儿,以原发性肉碱吸收障碍(78例,64.5%)最多见,其次为短链酰基辅酶A脱氢酶缺乏症(27例,22.3%),中链酰基辅酶A脱氢酶缺乏症5例(4.1%),多种酰基辅酶A脱氢酶缺乏症4例(3.3%),极长链酰基辅酶A脱氢酶缺乏症3例(2.5%),肉碱棕榈转移酶缺乏症Ⅰ型和Ⅱ型各2例(1.7%)。随访2~82个月,失访15例,死亡4例(原发性肉碱吸收障碍和多种酰基辅酶A脱氢酶缺乏症各1例,肉碱棕榈转移酶缺乏症2例),其余患儿体格和智力均发育正常。结论:FAOD在浙江省新生儿中以原发性肉碱吸收障碍和短链酰基辅酶A脱氢酶缺乏症最常见,通过早期干预管理,多数患儿无临床症状,体格及智力发育正常。

Objective：To screen fatty acid oxidation disorders （FAOD） in newborns in Zhejiang province. Methods：A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated. Results：Of 1 861 262 newborns screened, 121 cases of FAOD were diagnosed. Among 121 cases of FAOD, primary carnitine deficiency （PCD） was the most common type （n=78, 64.5%）, which was followed by short-chain acyl-CoA dehydrogenase deficiency （SCADD, n=27, 22.3%）, medium-chain acyl-CoA dehydrogenase deficiency （n=5, 4.1%）, multiple acyl-CoA dehydrogenase deficiency （MADD, n=4, 3.3%）, very long-chain acyl-CoA dehydrogenase deficiency （n=3, 2.5%）, carnitine palmitoyltransferase Ⅰ deficiency（n=2, 1.7%）and carnitine palmitoyltransferase Ⅱ deficiency （CPTⅡD, n=2, 1.7%）. During 2-82 month follow-up, 15 patients were lost, 4 were dead （1 PCD, 1 MADD, and 2 CPTⅡD）, and the remaining 102 subjects had normal intelligence and physical development without any clinical symptoms. Conclusions：PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management.