Haslinger B, Küchle C, Sitter T, Held E
Abteilung Nephrologie, Medizinische Klinik-Innenstadt, Klinikum der Universität München.
Dtsch Med Wochenschr. 2001 Nov 9;126(45):1265-8. doi: 10.1055/s-2001-18324.
A 36-year-old gardener was admitted for tonic-clonic seizures after binge drinking. The next days he developed massive rhabdomyolysis with acute renal failure. Past medical history was unremarkable except for a similar episode of acute renal failure 14 years ago. At that time he had consumed alcohol as well. Furthermore, the patient complained of exercise-related painful muscle cramping and swelling.
The serum creatinine peaked at 8.5 mg/dl, blood urea at 126 mg/dl and the maximal level of serum creatinine kinase was 108 300 U/l. Because of the massive rhabdomyolysis and the patient inverted question marks past medical history a metabolic myopathy was suspected and a muscle biopsy was performed. Histochemical staining of muscle frozen sections for phosphorylase revealed no activity which is typical for myophosphorylase deficiency (McArdle inverted question marks disease). Additional biochemical analysis of the muscle biopsy specimen confirmed the diagnosis.
By vigorous intravenous hydration and forced alkaline diuresis, the patient had a sufficient urinary output and lacked uremic signs. The serum creatinine and urea fell continuously and reached normal levels after 6 weeks. At that time serum creatinine kinase was still elevated (867 U/l), which is typical for McArdle inverted question marks disease. Avoiding alcohol, a new episode of rhabdomyolysis and acute renal failure did not occur.
Besides exercise alcohol is likely to be a further possible trigger of rhabdomyolysis and acute renal failure in McArdle inverted question marks disease. Postulated mechanisms by which alcohol induces muscle injury include direct muscle toxicity and inhibition of gluconeogenesis, as these patients are probably more dependent on the gluconeogenetic pathway for muscle cell metabolism.
一名36岁的园丁在狂饮后因强直阵挛性发作入院。接下来的几天,他出现了大面积横纹肌溶解并伴有急性肾衰竭。既往病史无特殊,仅14年前有过一次类似的急性肾衰竭发作,当时他也饮酒了。此外,患者还诉说有与运动相关的肌肉疼痛性痉挛和肿胀。
血清肌酐峰值达8.5mg/dl,血尿素达126mg/dl,血清肌酸激酶最高水平为108300U/l。由于大面积横纹肌溶解以及患者既往病史存疑,怀疑为代谢性肌病并进行了肌肉活检。肌肉冰冻切片的磷酸化酶组织化学染色显示无活性,这是肌磷酸化酶缺乏症(麦克尔迪病)的典型表现。肌肉活检标本的进一步生化分析证实了诊断。
通过积极的静脉补液和强制碱性利尿,患者尿量充足且无尿毒症体征。血清肌酐和尿素持续下降,6周后恢复正常水平。此时血清肌酸激酶仍升高(867U/l),这是麦克尔迪病的典型表现。避免饮酒后,未再发生横纹肌溶解和急性肾衰竭的新发作。
除运动外,酒精可能是麦克尔迪病横纹肌溶解和急性肾衰竭的另一个可能诱因。酒精诱导肌肉损伤的假定机制包括直接的肌肉毒性和糖异生抑制,因为这些患者可能更依赖糖异生途径进行肌肉细胞代谢。