Underlying diseases in sporadic presentation of high creatine kinase levels in girls
Underlying diseases in sporadic presentation of high creatine kinase levels in girls
复制标题
DOI：
10.1016/j.cca.2021.05.003
复制
发表时间：
2021-05-16
影响因子：
5
通讯作者：
Takeshima，Yasuhiro
中科院分区：
文献类型：
--
作者：
Lee，Tomoko;Tokunaga，Sachi;Takeshima，Yasuhiro
背景由于各种情况，可能会发生持续性肌酸激酶（CK）升高。确定高CK血症的原因对于进行适当的随访和护理至关重要。CK升高的女孩可能是Duchenne/Becker肌营养不良症（DMD/BMD）的携带者，使诊断比男孩更困难。本研究旨在阐明高CK水平的根本原因在girls. MethodsFourteen女孩（7症状，7无症状）持续升高CK水平，但没有肌肉疾病的家族史被称为我们的医院在2014年4月和2018年8月之间。肌肉活检和/或遗传分析进行diagnosis.ResultsAmong有症状的女孩，6（85.7%）有肌营养不良症（5 DMD/BMD载体，和一个肌聚糖病[肢带型肌营养不良症：LGMDR4]），和一个皮肌炎。在无症状的女孩，四（57.1%）有肌营养不良症（三DMD/BMD载体，和calpainopathy [LGMDR1]），和三个未确诊。ConclusionOur结果表明，肌营养不良症，包括DMD/BMD载体，必须考虑在女孩highperCK血症，无论症状的表现，并在有症状的女孩皮肌炎。应在适当的伦理考虑下对高CK血症女孩进行检查。有必要进一步研究，以制定高CK血症女孩的诊断策略。
BackgroundPersistent creatine kinase (CK) elevation can occur due to various conditions. Identifying the causes of hyperCKemia is crucial for enabling appropriate follow-up and care. Girls with elevated CK levels may be carriers of Duchenne/Becker muscular dystrophy (DMD/BMD), making diagnosis more difficult than that in boys. This study aimed to elucidate the underlying causes of high CK levels in girls.MethodsFourteen 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. Muscle biopsy and/or genetic analysis were conducted for diagnoses.ResultsAmong 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.ConclusionOur 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. Investigations in girls with hyperCKemia should be performed under proper ethical considerations. Further research is necessary to develop a diagnostic strategy for girls with hyperCKemia.