Acute renal failure due to carnitine palmitoyltransferase deficiency
Acute renal failure due to carnitine palmitoyltransferase deficiency
复制标题
肉碱棕榈酰转移酶缺乏所致急性肾功能衰竭
DOI：
10.1111/j.1365-2796.1993.tb00991.x
复制
发表时间：
1993
影响因子：
11.1
通讯作者：
H. Bar
中科院分区：
文献类型：
--
作者：
N. Berkman;D. Meirow;Z. Katzir;H. Bar
抽象的。一名看起来很健康的年轻士兵在长期锻炼后出现了急性肌肉无力和横纹肌溶解。由此产生的肌红蛋白尿导致了严重的急性肾功能衰竭。进一步研究发现肉碱棕榈酰转移酶缺乏是横纹肌溶解的原因。肾功能随后恢复正常。在不明原因的肌红蛋白尿和肾功能衰竭的情况下，应该考虑这种罕见的代谢紊乱。
Abstract. A young, apparently healthy, soldier developed acute muscle weakness and rhabdomyolysis following prolonged exercise. The resultant myoglobinuria caused severe acute renal failure. Further investigation revealed the presence of carnitine palmitoyltransferase deficiency as the cause of the rhabdomyolysis. Renal function subsequently returned to normal. This rare metabolic disorder should be considered in cases of unexplained myoglobinuria and renal failure.