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Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency.
Rambabova-Bushljetik, Irena; Dzekova-Vidimliski, Pavlina; Karanfilovski, Vlatko; Sterjova-Markovska, Zaklina; Cana, Fadil; Bushljetikj, Oliver; Balkanov, Svetlana; Kapedanovska-Nestorovska, Aleksandra; Dimovski, Aleksandar.
  • Rambabova-Bushljetik I; University Clinic of Nephrology, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Dzekova-Vidimliski P; University Clinic of Nephrology, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Karanfilovski V; University Clinic of Nephrology, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Sterjova-Markovska Z; University Clinic of Nephrology, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Cana F; University Clinic of Infectious disease, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Bushljetikj O; University Clinic of Cardiology, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Balkanov S; University Clinic of Hematology, Un. Ss Cyril and Methodius, Skopje, RN Macedoniam.
  • Kapedanovska-Nestorovska A; Faculty of Pharmacy, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
  • Dimovski A; Faculty of Pharmacy, Un. Ss Cyril and Methodius, Skopje, RN Macedonia.
Pril (Makedon Akad Nauk Umet Odd Med Nauki) ; 43(3): 61-66, 2022 Nov 01.
Article in English | MEDLINE | ID: covidwho-2154571
ABSTRACT
Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive inherited disorder of long-chain fatty acid oxidation in the mitochondrial matrix, resulting in an inability to utilize fat for energy in cells. The most frequent myopathic form occurs in young adults and is associated with recurrent episodes of exercise-induced rhabdomyolysis. The myopathic form is caused by the Ser113Leu mutation of the CPT II gene. Rarely, massive rhabdomyolysis could be complicated by acute kidney injury (AKI), cardiomyopathy, and respiratory insufficiency. We present a case of an 18-year old male with myalgia, muscular weakness, and dark-colored urine after prolonged exercise and a recent mildSARS-CoV-2infection. Massive rhabdomyolysis was diagnosed with markedly increased serum concentrations of myoglobin and creatine kinase, with normal kidney function. The patient experienced two similar episodes in the years 2017 and 2018, with rhabdomyolysis and AKI treated with hemodialysis. After excluding autoimmune and infectious diseases as causes of recurrent rhabdomyolysis, the patient was genetically tested and Ser113Leu mutation of the CPT II gene was confirmed. When a patient presents with myalgia and dark-colored urine triggered by minor physical activities, genetic testing for possible CPT II deficiency should be initiated. TheSARS-CoV-2infection could be a factor that triggers the occurrence of rhabdomyolysis and aggravates the severity of the attack in patients with CPT II deficiency.
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Full text: Available Collection: International databases Database: MEDLINE Type of study: Prognostic study Language: English Journal: Pril (Makedon Akad Nauk Umet Odd Med Nauki) Year: 2022 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Type of study: Prognostic study Language: English Journal: Pril (Makedon Akad Nauk Umet Odd Med Nauki) Year: 2022 Document Type: Article