Kernder A, Mucke J, Moldovan A-S, Albrecht P, Neuen-Jacob E, Schneider M
Poliklinik für Rheumatologie und Hiller Forschungszentrum, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Klinik für Neurologie, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Z Rheumatol. 2020 Aug;79(6):578-583. doi: 10.1007/s00393-020-00815-1.
Rheumatologists are often confronted by patients with muscle weakness and elevated creatine kinase (CK) levels. Myositis cannot always be determined to be the cause of the complaints. This article presents two cases from our hospital where the diagnosis could only be determined by muscle biopsy. In the first case the patient presented with muscle weakness, pathological weight loss and a significant increase in CK levels. A muscle biopsy revealed an immune-mediated necrotizing myopathy (IMNM) caused by anti-3-hydroxy-3-methyl-gulatryl-CoA reductase (HMG-CoA reductase) autoantibodies due to the intake of statins. The second patient presented with cramp-like and burning muscle pain and weakness of the extremities without a relevant increase in CK level. Myoadenylate deaminase deficiency was also detected by muscle biopsy, and further confirmed by genetic testing.
风湿科医生经常会遇到肌肉无力且肌酸激酶(CK)水平升高的患者。肌炎并不总是能被确定为这些症状的病因。本文介绍了我院的两个病例,其诊断只能通过肌肉活检来确定。在第一个病例中,患者表现为肌肉无力、病理性体重减轻以及CK水平显著升高。肌肉活检显示,由于服用他汀类药物,抗3-羟基-3-甲基戊二酰辅酶A还原酶(HMG-CoA还原酶)自身抗体导致了免疫介导的坏死性肌病(IMNM)。第二个患者表现为类似抽筋的灼痛性肌肉疼痛和四肢无力,但CK水平无明显升高。肌肉活检还检测到肌腺苷酸脱氨酶缺乏,并通过基因检测进一步证实。