Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan
Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan
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DOI：
10.1016/j.braindev.2018.07.016
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发表时间：
2019-01-01
影响因子：
1.7
通讯作者：
Nishio, Hisahide
中科院分区：
文献类型：
--
作者：
Okamoto, Kentaro;Fukuda, Mitsumasa;Nishio, Hisahide
背景：脊髓性肌萎缩症（SMA）是一种由SMN 1基因纯合突变引起的常染色体隐性遗传疾病。SMA长期以来一直被认为是婴儿死亡的最常见遗传原因。然而，在日本，尚无基于基因检测的婴儿SMA（1型和2型）流行病学报告。在这项研究中，我们估计了四国岛婴儿SMA的发病率，四国岛是日本的主要岛屿，由四个县组成：爱媛县，香川县，德岛县和高知县。方法：向四国岛的91家医院发送问卷，调查2011年至2015年出生的SMA婴儿数量。然后发送第二份调查问卷，以确认基于临床和遗传特征的SMA诊断。结果：所有医院都收到了回复，在147，950例活产婴儿中，有4例患者被诊断为婴儿SMA。我们估计婴儿SMA患者的发病率为2.7/100，000例活产（95%置信区间为0.1- 5.4）。四个都道府县的比较表明，爱媛县婴儿SMA的发病率明显高于其他三个都道府县;每10万活产5.6人（95%置信区间，-0.7至11.9），每10万例活产1.1例（95%置信区间，-1.0至3.1）在其他prefecturs.Conclusion：我们估计婴儿SMA的发病率在日本的一个孤立的地区。为了更精确地确定婴儿SMA的发病率，需要进行包括新生儿筛查在内的进一步研究。(C)2018日本儿童神经病学学会Elsevier B. V.出版，保留所有权利。
Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi.Methods: A questionnaire was sent to 91 hospitals on Shikoku Island to investigate the number of SMA infants born from 2011 to 2015. A second questionnaire was then sent to confirm the diagnoses of SMA based on clinical and genetic features.Results: Responses were received from all of the hospitals, and four patients were diagnosed with infantile SMA among 147,950 live births. We estimated the incidence of infantile SMA patients as 2.7 per 100,000 live births (95% confidence interval, 0.1- 5.4). A comparison of the four prefectures indicated that the incidence of infantile SMA was significantly higher in Ehime Prefecture than in the other three prefectures; 5.6 per 100,000 live births (95% confidence interval, -0.7 to 11.9) in Ehime Prefecture and 1.1 per 100,000 live births (95% confidence interval, -1.0 to 3.1) in the other prefectures.Conclusion: We estimated the incidence of infantile SMA in an isolated area of Japan. For more precise determination of the incidence of infantile SMA, further studies that include neonatal screening will be needed. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.