Topçu Yasemin, Bayram Erhan, Karaoğlu Pakize, Yiş Uluç, Bayram Meral, Kurul Semra Hiz
From the *Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Medical Faculty; and †Dr Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Montro, İzmir, Turkey.
Pediatr Emerg Care. 2014 May;30(5):343-4. doi: 10.1097/PEC.0000000000000127.
The most common cause of recurrent rhabdomyolysis in childhood is inherited metabolic disorders. Carnitine palmitoyl transferase II (CPT II) deficiency is a lipidosis and is a common cause of inherited recurrent myoglobinuria. The disease is inherited in autosomal recessive trait, and the clinical phenotype ranges from a severe and multisystemic infantile form to a milder muscle form, which is characterized with rhabdomyolysis and myoglobinuria. Exercise, infection, fasting, and cold are the most important triggering factors of rhabdomyolysis in CPT II deficiency. The severity of attacks is highly variable and some of these attacks may be complicated by acute renal failure. We report a case of a 13-year-old girl with recurrent rhabdomyolysis due to CPT II deficiency whose last attack was complicated by acute renal failure.
儿童复发性横纹肌溶解症最常见的病因是遗传性代谢紊乱。肉碱棕榈酰转移酶II（CPT II）缺乏症是一种脂质沉积症，是遗传性复发性肌红蛋白尿的常见病因。该疾病以常染色体隐性特征遗传，临床表型从严重的多系统婴儿型到较轻的肌肉型不等，其特征为横纹肌溶解症和肌红蛋白尿。运动、感染、禁食和寒冷是CPT II缺乏症患者横纹肌溶解症最重要的诱发因素。发作的严重程度差异很大，其中一些发作可能并发急性肾衰竭。我们报告一例13岁女孩因CPT II缺乏症导致复发性横纹肌溶解症，其最后一次发作并发了急性肾衰竭。
