Meunier J, Perrot D, Bret M, Pissere-Meunier J, Bouletreau P, Pasquier J, Carrier H, Berthillier G
Nouv Presse Med. 1982 Sep 25;11(37):2767-71.
A 45-year-old man was hospitalized on 3 occasions for recurrent myalgias with paroxysmal myoglobinuria resulting in two episodes of acute renal failure. The second episode was fatal: the patient died of shock and hyperkaliaemia during haemodialysis. The predominant signs and symptoms were muscle pain with functional deficit, signs of renal failure and a rise in serum enzymes. All examinations were negative between attacks. Muscle biopsies showed a major degree of myolysis, and biochemical tests demonstrated severe muscle palmityl transferase deficiency associated with partial deficiency of muscle carnitine. The diagnostic features and physiopathology of the disease are reviewed.
一名45岁男性因复发性肌痛伴阵发性肌红蛋白尿3次住院，导致两次急性肾衰竭发作。第二次发作是致命的：患者在血液透析期间死于休克和高钾血症。主要体征和症状为伴有功能缺陷的肌肉疼痛、肾衰竭体征和血清酶升高。发作间期所有检查均为阴性。肌肉活检显示有严重程度的肌溶解，生化检查表明存在严重的肌肉棕榈酰转移酶缺乏，并伴有部分肌肉肉碱缺乏。本文对该疾病的诊断特征和病理生理学进行了综述。
