利用加拿大儿科监测项目评估加拿大中链酰基辅酶A脱氢酶缺乏症的发病率：新生儿筛查的作用。
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
作者信息
Prasad Chitra, Speechley Kathy N, Dyack Sarah, Rupar Charles A, Chakraborty Pranesh, Kronick Jonathan B
机构信息
Department of Paediatrics; ; Children's Health Research Institute;
出版信息
Paediatr Child Health. 2012 Apr;17(4):185-9. doi: 10.1093/pch/17.4.185.
BACKGROUND
The incidence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) was estimated using the Canadian Paediatric Surveillance Program (CPSP) in Canada over a three-year period. Data regarding mutations associated with MCADD cases were collected wherever available.
METHODS
Data were collected over a 36-month period using a monthly mailed questionnaire distributed through the CPSP to more than 2500 Canadian paediatricians, medical geneticists and paediatric pathologists.
RESULTS AND CONCLUSIONS
During the three years of MCADD surveillance, 46 confirmed cases out of a total of 71 reported cases were found - an average of approximately 15 cases per year. This rate is lower than the initial estimate of approximately 30 cases per year of MCADD in Canada, based on the reported incidence of MCADD in the literature of approximately one in 10,000 to one in 20,000. All cases ascertained by newborn screening were asymptomatic. There were two deaths, both in jurisdictions without newborn screening for MCADD. The data support population-based newborn screening for MCADD.
背景
在三年时间里，利用加拿大儿科监测项目（CPSP）对加拿大中链酰基辅酶A脱氢酶缺乏症（MCADD）的发病率进行了估算。只要有可能，就收集与MCADD病例相关的突变数据。
方法
在36个月的时间里，通过CPSP每月邮寄问卷的方式，向2500多名加拿大儿科医生、医学遗传学家和儿科病理学家收集数据。
结果与结论
在MCADD监测的三年中，在总共报告的71例病例中发现了46例确诊病例，平均每年约15例。这一发病率低于加拿大最初的估计，即根据文献报道的MCADD发病率约为万分之一至二万分之一，最初估计加拿大每年约有30例MCADD病例。通过新生儿筛查确诊的所有病例均无症状。有两例死亡，均发生在未对MCADD进行新生儿筛查的辖区。这些数据支持对MCADD进行基于人群的新生儿筛查。
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