A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency

Abstract

The most common cause of rhabdomyolysis is trauma. In the presence of rhabdomyolysis attacks triggered by heavy exercise and fever, hereditary causes should be investigated. In our study, a case was presented that developed rhabdomyolysis and acute kidney injury due to carnitine palmitoyltransferase 2 (CPT2) deficiency and then required hemodialysis treatment. We wanted to draw attention to hereditary rhabdomyolysis in this case. A 25-year-old male patient was hospitalized with pneumonia and acute kidney injury. On examination, muscle enzymes, creatinine, and potassium levels were high. The patient, who was evaluated as having rhabdomyolysis and acute kidney injury, underwent three sessions of hemodialysis treatment due to the indication for renal replacement therapy. He had a history of rhabdomyolysis and acute kidney injury 5 years ago. The only trigger for both attacks was febrile infection. There was a history of acute kidney injury in two of his siblings in family history. In the gene analysis requested due to suspicion of hereditary causes, homozygous mutation was detected in CPT2 whole gene sequence analysis. Medium-chain triglycerides, low-fat diet, and L-carnitine capsules were given for treatment. Carnitine palmitoyltransferase 2 deficiency is the most common form of muscle fatty acid metabolism disorder. The phenotype of the patients can vary from severe infantile form to milder muscle form characterized by rhabdomyolysis. Cases requiring hemodialysis are very rare, so we wanted to present this case. Detection of hereditary rhabdomyolysis is important for preventing new attacks and preventive treatments.

Keywords: CPT2 deficiency; acute kidney injury; rhabdomyolysis.