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肉碱棕榈酰转移酶缺乏所致的急性肾衰竭

Acute renal failure due to carnitine palmitoyltransferase deficiency.

作者信息

Berkman N, Meirow D, Katzir Z, Bar-On H

机构信息

Division of Internal Medicine, Hadassah University Hospital, Jerusalem, Israel.

出版信息

J Intern Med. 1993 Mar;233(3):295-7. doi: 10.1111/j.1365-2796.1993.tb00991.x.

DOI:10.1111/j.1365-2796.1993.tb00991.x
PMID:8450300
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.

摘要

一名年轻、看似健康的士兵在长时间运动后出现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衰竭。进一步调查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。对于不明原因的肌红蛋白尿和肾衰竭病例,应考虑这种罕见的代谢紊乱。

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Acute renal failure due to carnitine palmitoyltransferase deficiency.肉碱棕榈酰转移酶缺乏所致的急性肾衰竭
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A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.一名10岁肌肉无力和双侧听力丧失男孩中肉碱棕榈酰转移酶II(CPT-2)缺乏症的罕见表现,酰基肉碱谱正常;病例报告
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