Deutsch M, Vassilopoulos D, Sevastos N, Papadimitriou A, Vasiliou K, Archimandritis A J
Academic Department of Internal Medicine, Hippokration General Hospital, Athens, Greece.
Eur J Intern Med. 2008 Jun;19(4):289-91. doi: 10.1016/j.ejim.2007.04.025. Epub 2008 Jan 9.
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder associated with rhabdomyolysis. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency.
肉碱棕榈酰转移酶II(CPT2)缺乏症是一种与横纹肌溶解相关的遗传性疾病。成人型CPT2缺乏症通常“良性”,其特征为横纹肌溶解发作,无肌肉外表现且预后良好,而婴儿型则典型地表现为严重的代谢症状,如低酮性低血糖。我们在此报告一例成年CPT2缺乏症患者出现严重横纹肌溶解伴急性肾衰竭和低血糖的病例。