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論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Underlying diseases in sporadic presentation of high creatine kinase levels in girls.
掲載誌名	正式名：Clinica chimica acta; international journal of clinical chemistry ISSNコード：18733492/00098981
掲載区分	国外
巻・号・頁	519,pp.198-203
著者・共著者	Lee T, Tokunaga S, Taniguchi N, Misaki M, Shimomura H, Nishino I, Itoh K, Takeshima Y
発行年月	2021/08
概要	Identifying the causes of hyperCKemia is crucial for enabling appropriate follow-up and care. This study aimed to elucidate the underlying causes of high CK levels in girls. Fourteen girls (seven symptomatic, seven asymptomatic) with persistently elevated CK levels but without a family history of muscle diseases were referred to our hospital between April 2014 and August 2018. Among the symptomatic girls, six (85.7%) had muscular dystrophy (five DMD/BMD carriers, and one sarcoglycanopathy [limb-girdle muscular dystrophy: LGMDR4]), and one had dermatomyositis. Among the asymptomatic girls, four (57.1%) had muscular dystrophy (three DMD/BMD carriers, and one calpainopathy [LGMDR1]), and three were undiagnosed. Our results indicate that muscular dystrophy, including DMD/BMD carriers, must be considered in girls with highperCKemia regardless of symptoms presentation, and in symptomatic girls with dermatomyositis.