Carnitin-Palmitoyl Transferase type 2 deficiency: a rare cause of acute renal failure due to rhabdomyolysis

Abstract

Fatty acid oxidation disorders are inborn errors of metabolism. One of the possible alterations involves the failure of the carnitin-based transport of long-chain fatty acids into the mitochondria, necessary for muscle metabolism in case of prolonged physical exertion. Three kinds of Carnitin-Palmitoyl Transferase type 2 (CPT2) deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. The clinical picture is characterized by recurrent attacks of rhabdomyolysis, muscular pains and fatigue, secondary to a prolonged physical exercise and sometimes aggravated by intercurrent events. Rhabdomyolysis episodes are associated with a significant increase in creatine phosphokinase and myoglobinuria and may result in acute renal failure. Patients are usually asymptomatic during intercurrent periods. When acute renal failure from rhabdomyolysis arises after intense physical activity, it is therefore necessary to also investigate the presence of metabolic myopathies due to enzymatic deficiency.

Keywords: deficit CPT2, rhabdomyolysis, acute renal failure

Sorry, this entry is only available in Italian.

Protected: Carnitin-Palmitoyl Transferase type 2 deficiency: a rare cause of acute renal failure due to rhabdomyolysis

Abstract

Fatty acid oxidation disorders are inborn errors of metabolism. One of the possible alterations involves the failure of the carnitin-based transport of long-chain fatty acids into the mitochondria, necessary for muscle metabolism in case of prolonged physical exertion. Three kinds of Carnitin-Palmitoyl Transferase type 2 (CPT2) deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. The clinical picture is characterized by recurrent attacks of rhabdomyolysis, muscular pains and fatigue, secondary to a prolonged physical exercise and sometimes aggravated by intercurrent events. Rhabdomyolysis episodes are associated with a significant increase in creatine phosphokinase and myoglobinuria and may result in acute renal failure. Patients are usually asymptomatic during intercurrent periods. When acute renal failure from rhabdomyolysis arises after intense physical activity, it is therefore necessary to also investigate the presence of metabolic myopathies due to enzymatic deficiency.

 

Keywords: deficit CPT2, rhabdomyolysis, acute renal failure

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Atypical Hemolytic Uremic Syndrome: experience of a pediatric center

Abstract

In the last two years we admitted in our Hospital  38 children with acute renal failure (ARF). Six of them were affected by hemolytic uremic syndrome (HUS) atypical. The aHUS is diagnosed in the presence of thrombotic microangiopathy (MAT), renal insufficiency (GFR 5%).

The clinical presentation of our children has been varied and so also its evolution. Patients observed were all male, aged 2 to 12 years, and no one had a family history of kidney disease. In four patients we documented alterations of complement factors (MCP deficiency and factor H and presence of anti factor H). Repeated blood transfusions were required in 4 patients and in 3 patients the platelet count was slightly reduced. In 5 patients we did plasmapheresis and in 3 patients dialysis (hemodialysis and peritoneal dialysis). In three patients in whom the diagnosis was not clear, renal biopsy was performed to confirm the diagnosis. Eculizumab was administered in 3 patients resistant to plasma exchange. We obtain a rapid response on MAT with normalization of platelet count. The effect on renal function was variable (complete remission in a patient, partial improvement in another, and unresponsiveness in the last). The last had on Kidney biopsy signs of severe impairment and we documented the presence of antibodies to eculizumab. HUS is a rare condition, but probably much more common than reported. In children with ARF and microangiopathic anemia is necessary evaluated  complement factors as early to obtain an improved clinical response to treatment with eculizumab.

Keywords: atypical hemolytic uremic syndrome, acute renal failure, pediatric, eculizumab.

Sorry, this entry is only available in Italian.