Melek Engin, Bulut Fatma Derya, Atmış Bahriye, Yılmaz Berna Şeker, Bayazıt Aysun Karabay, Mungan Neslihan Önenli
J Pediatr Endocrinol Metab. 2017 Feb 1;30(2):237-239. doi: 10.1515/jpem-2016-0324.
Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which leads to rhabdomyolysis and subsequent acute renal failure. The clinical phenotype varies from a severe infantile form to a milder muscle form. Here, we report a 9-year-old boy referred to our hospital for the investigation of hematuria with a 2-day history of dark urine and malaise. As no erythrocytes in the microscopic examination of the urine and hemoglobinuria were present, myoglobinuria due to rhabdomyolysis was the most probable cause of dark urine. After excluding the other causes of rhabdomyolysis, with the help of metabolic investigations, the patient was suspected to have CPT-II deficiency, the most common cause of metabolic rhabdomyolysis. Our aim in presenting this case is to emphasize considering rhabdomyolysis in the differential diagnosis of dark urine in order to prevent recurrent rhabdomyolysis and renal injury.
肉碱棕榈酰转移酶II（CPT-II）缺乏症是一种常染色体隐性遗传疾病，涉及长链脂肪酸的β氧化，可导致横纹肌溶解及随后的急性肾衰竭。临床表型从严重的婴儿型到较温和的肌肉型不等。在此，我们报告一名9岁男孩，因血尿被转诊至我院，有2天深色尿和不适病史。由于尿液显微镜检查未发现红细胞且无血红蛋白尿，横纹肌溶解导致的肌红蛋白尿最有可能是深色尿的原因。在排除横纹肌溶解的其他原因后，借助代谢检查，怀疑该患者患有CPT-II缺乏症，这是代谢性横纹肌溶解最常见的病因。我们呈现此病例的目的是强调在深色尿的鉴别诊断中考虑横纹肌溶解，以预防复发性横纹肌溶解和肾损伤。
