日本脊髓性肌萎缩症的新生儿筛查：一年经验
Newborn screening for spinal muscular atrophy in Japan: One year of experience.
作者信息
Sawada Takaaki, Kido Jun, Sugawara Keishin, Yoshida Shinichiro, Ozasa Shiro, Nomura Keiko, Okada Kentaro, Fujiyama Natsumi, Nakamura Kimitoshi
机构信息
Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
出版信息
Mol Genet Metab Rep. 2022 Aug 2;32:100908. doi: 10.1016/j.ymgmr.2022.100908. eCollection 2022 Sep.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord. Although effective treatments, such as gene therapy, have emerged in recent years, their therapeutic efficacy depends on a restricted time window of treatment initiation. For the treatment to be effective, it must be started before symptoms of the disease emerge. For this purpose, newborn screening (NBS) for SMA is conducted in many countries worldwide. The NBS program for SMA has been initiated in Japan in several regions, including the Kumamoto Prefecture. We started the NBS program in February 2021 and detected a patient with SMA after screening 13,587 newborns in the first year. Herein, we report our experience with the NBS program for SMA and discuss an issue to be approached in the future.
脊髓性肌萎缩症（SMA）是一种退行性神经肌肉疾病，由于脊髓前角细胞丧失，导致进行性肌肉无力和萎缩。尽管近年来出现了一些有效的治疗方法，如基因疗法，但其治疗效果取决于开始治疗的有限时间窗。为使治疗有效，必须在疾病症状出现之前开始。为此，全球许多国家都开展了脊髓性肌萎缩症的新生儿筛查（NBS）。日本的几个地区，包括熊本县，已经启动了脊髓性肌萎缩症的新生儿筛查项目。我们于2021年2月启动了该新生儿筛查项目，第一年筛查了13587名新生儿后，检测出一名脊髓性肌萎缩症患者。在此，我们报告我们在脊髓性肌萎缩症新生儿筛查项目中的经验，并讨论未来需要解决的一个问题。
Zotero 插件