[Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].
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.
D058186:Acute Kidney Injury / Q000209:etiology*; D000217:Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology* / Q000473:pathology; D009212:Myoglobinuria / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D012008:Recurrence
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Myoglobinurie paroxystique récidivante avec insuffisance rénale aiguë secondaire à un déficit en carnitine palmityl transférase musculaire. Une observation.