Two episodes of acute renal failure with histological evidence of tubular necrosis and with polyuric recovery after hemodialysis and furosemide, occurred in an 18 year old boy following a football game, and an overdose of ethanol. The clinical picture (muscular pain, dark urine with pigmented casts, marked elevation of serum creatinephosphokinase, unusually rapid increase in serum creatinine, uric acid, potassium and inorganic phosphate) was consistent with nontraumatic rhabdomyolysis; this diagnosis was confirmed by the myolytic pattern on light and electron microscopy examination of a muscle biopsy. The deficiency of carnitine-palmityl-transferase (CPT), a mitochondrial enzyme which allows the long-chain fatty acids utilization as a source of energy in stress conditions, was demonstrated to be the cause of rhabdomyolysis both 'in vitro' by radioenzymatic methods on muscular and hepatic tissues, and 'in vivo' by ketone production during fasting and lipid load tests. An attack of rhabdomyolysis was followed by a viral illness with very high fever, but a tubular wash-out of the myoglobin was performed in the early phase by a massive infusion of fluids and renal failure did not develop. A careful warning to avoid metabolic stress (fatigue, fasting, cold, etc.) and to accept a diet containing MCT oil (Medium Chain Triglycerides) prevented further attacks.

Castiglione, A., Cornelio, F., Vendemia, F., Rimoldi, M., Sinico, R., Baroni, M., et al. (1981). [Acute recurrent renal insufficiency in a patient with atraumatic rhabdomyolysis caused by carnitine-palmitoyltransferase deficiency]. MINERVA NEFROLOGICA, 28(3), 229-234.

[Acute recurrent renal insufficiency in a patient with atraumatic rhabdomyolysis caused by carnitine-palmitoyltransferase deficiency]

SINICO, RENATO ALBERTO;
1981

Abstract

Two episodes of acute renal failure with histological evidence of tubular necrosis and with polyuric recovery after hemodialysis and furosemide, occurred in an 18 year old boy following a football game, and an overdose of ethanol. The clinical picture (muscular pain, dark urine with pigmented casts, marked elevation of serum creatinephosphokinase, unusually rapid increase in serum creatinine, uric acid, potassium and inorganic phosphate) was consistent with nontraumatic rhabdomyolysis; this diagnosis was confirmed by the myolytic pattern on light and electron microscopy examination of a muscle biopsy. The deficiency of carnitine-palmityl-transferase (CPT), a mitochondrial enzyme which allows the long-chain fatty acids utilization as a source of energy in stress conditions, was demonstrated to be the cause of rhabdomyolysis both 'in vitro' by radioenzymatic methods on muscular and hepatic tissues, and 'in vivo' by ketone production during fasting and lipid load tests. An attack of rhabdomyolysis was followed by a viral illness with very high fever, but a tubular wash-out of the myoglobin was performed in the early phase by a massive infusion of fluids and renal failure did not develop. A careful warning to avoid metabolic stress (fatigue, fasting, cold, etc.) and to accept a diet containing MCT oil (Medium Chain Triglycerides) prevented further attacks.
Articolo in rivista - Articolo scientifico
Acute Kidney Injury; Acyltransferases; Adolescent; Carnitine O-Palmitoyltransferase; Humans; Male; Myoglobinuria; Recurrence
Italian
229
234
6
Castiglione, A., Cornelio, F., Vendemia, F., Rimoldi, M., Sinico, R., Baroni, M., et al. (1981). [Acute recurrent renal insufficiency in a patient with atraumatic rhabdomyolysis caused by carnitine-palmitoyltransferase deficiency]. MINERVA NEFROLOGICA, 28(3), 229-234.
Castiglione, A; Cornelio, F; Vendemia, F; Rimoldi, M; Sinico, R; Baroni, M; D'Amico, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/140241
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