Dupond J L, de Wazières B, Monnier G, Closs F, Desmurs H
Service de Médecine interne, Hôpital Jean-Minjoz, CHR, Besançon.
Presse Med. 1992 Jun 6;21(21):974-8.
Exercise-induced enzymatic myopathies include carnitine palmityl transferase deficiency and, among muscular glycogenoses, Mac Ardle's and Tarui diseases. These diseases are usually recognized when exercise-induced myalgias, myoglobinuria and raised creatinine kinase (CK) levels are present. However, myoglobinuria may be absent in 10 to 50 percent of the cases, and CK levels are often normal at rest; thus, the diagnosis is often delayed for several years, with a risk of acute renal failure in 10 to 30 percent of the patients. We report 6 cases of exercise-induced enzymatic myopathies with normal CK levels and with electromyographic studies at rest. The main clinical features of these cases and those of similar conditions reported in the literature are male sex, onset of the disease before the age of 15 years, episodes of severe exercise-induced myalgias, cramps and muscle weakness and myogenic hyperuricaemia at rest in muscular glycogenosis.
运动诱导性酶病性肌病包括肉碱棕榈酰转移酶缺乏症，以及在肌肉糖原贮积症中的麦克尔迪尔氏病和塔瑞氏病。当出现运动诱导性肌痛、肌红蛋白尿和肌酸激酶（CK）水平升高时，通常可识别出这些疾病。然而，10%至50%的病例可能不存在肌红蛋白尿，且CK水平在静息时往往正常；因此，诊断常常延迟数年，10%至30%的患者有急性肾衰竭风险。我们报告6例运动诱导性酶病性肌病，其CK水平正常且静息时有肌电图检查结果。这些病例以及文献中报道的类似病症的主要临床特征为男性、15岁前发病、剧烈运动诱导性肌痛发作、痉挛和肌肉无力，以及肌肉糖原贮积症静息时的肌源性高尿酸血症。
