RIDVAN SIVTRITEPE1, SEMA UÇAK BASAT1, KEVSER KUTLU TATAR1, MURAT TUGCU2
1University of Health Sciences Umraniye Education and Research Hospital, İnternal Medicine, Elmalıkent Quarter, AdemYavuz Street No. 1, Umraniye / Istanbul - 2Haydarpaşa Numune Education and Research Hospital Nephrology, Tibbiye Street, No:2334668 Uskudar, Istanbul, Turkey
Introduction: Inherited metabolic disorders are the most common causes of recurrent rhabdomyolysis in adults and children. Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited lipid metabolism disorder resulting in recurrent myoglobinuria. CPT II deficiency is inherited in an autosomal recessive trait and clinical phenotype varies from severe and multisy- stemic infantile form to mild muscle form characterized by rhabdomyolysis and myoglobinuria. Exercise, infections, starvation, and cold exposure are the most important factors triggering rhabdomyolysis in cases with CPT II deficiency. The severity of disease epi- sodes is considerably variable and some patients may develop acute renal failure during the episodes.
Case presentation: The current manuscript presents a patient with acute uremia, who suffered from nausea, vomiting, and dark-colored urination in the past three days. The patient was initially considered to have acute renal failure (ARF) associated with dehydration. However, high levels of creatine phosphokinase suggested the diagnosis of rhabdomyolysis. Remarkable medical history for prolonged starvation and cold exposure and past medical history that was remarkable for a single episode of dark-colored urina- tion in adolescence prompted genetic analysis, which revealed carnitine palmitoyltransferase II(CPT II) deficiency. The current report presents a patient with acute renal failure secondary to rhabdomyolysis that was associated with CPT II deficiency and it highlights the importance of anamnesis in diagnosis and treatment.
Conclusion: Inherited disorders are one of the rare but important causes of rhabdomyolysis. These inherited causes are often overlooked. The present manuscript has attempted to highlight these issues.
Carnitine palmitoyl transferase II deficiency, rhabdomyolysis, acute renal failure.