一名患有抗-HMGCR肌病的11岁女孩的六年随访。

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI:10.3233/JND-240022

Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu

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引用次数: 0

摘要

抗-HMGCR肌病是一种免疫介导的坏死性肌病，其特征是亚急性、进行性近端肌无力和肌酸激酶（CK）水平升高。在儿科人群中，抗-HMGCR 肌病仅有少量病例报道，但十分罕见。虽然治疗方法尚未达成共识，但使用多种免疫调节剂（包括 IVIg）进行适当治疗后，病情会有显著改善。我们报告了一名被诊断患有抗-HMGCR 肌病的 11 岁女孩的病例，随访 6 年。

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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.

Anti-HMGCR myopathy is decribed as an immune-mediated necrotizing myopathy which is characterised by subacute, progressive proximal muscle weakness and elevated creatine kinase (CK) level. In pediatric population, anti-HMGCR myopathy has been reported solely as small case reports, albeit rare. Although treatment consensus has not yet been established, proper treatment with several immunomodulators to include IVIg can show remarkable improvement. We report an 11-year-old-girl diagnosed with anti-HMGCR myopathy with 6 years of follow-up.

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来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.