A RARE CAUSE OF RHABDOMYOLYSIS AND ACUTE RENAL FAILURE IN AN ADULT PATIENT: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY

Sivtritepe R., Basat S. U., Tatar K. K., Tugcu M.

ACTA MEDICA MEDITERRANEA, cilt.33, sa.5, ss.789-793, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 5
  • Basım Tarihi: 2017
  • Doi Numarası: 10.19193/0393-6384_2017_5_116
  • Dergi Adı: ACTA MEDICA MEDITERRANEA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.789-793
  • Anahtar Kelimeler: Carnitine palmitoyl transferase II deficiency, rhabdomyolysis, acute renal failure, FEATURES
  • Marmara Üniversitesi Adresli: Hayır

Özet

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 multisystemic 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 episodes is considerably variable and some patients may develop acute renal failure during the episodes.