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[麦克尔(McArdle)综合征中的急性肌红蛋白尿性肾衰竭。31P核磁共振波谱的诊断意义]

[Acute myoglobinuric kidney failure in McArdle's syndrome. The diagnostic significance of 31P nuclear magnetic resonance spectroscopy].

作者信息

Reichel H, Juretschke H P, Humburger F, Rieke K, Meinck H M, Hörl W H, Ritz E

机构信息

Sektion Nephrologie, Medizinische Klinik I, Universität Heidelberg.

出版信息

Dtsch Med Wochenschr. 1993 Apr 30;118(17):615-21. doi: 10.1055/s-2008-1059370.

DOI:10.1055/s-2008-1059370
PMID:8482239
Abstract

A 44-year-old man developed acute renal failure, associated with reddish brown urine, after severe physical exertion. Since childhood his physical capacity was known to be limited. Muscular indurations, cramps and pains had occurred after muscular work. Serum creatinine level on the day before hospitalization was 10.0 mg/dl, creatine-kinase activity 3,790 U/l, lactate dehydrogenase activity 670 U/l, myoglobin level 701 ng/ml. Cause of the rhabdomyolysis was thought to be McArdle's disease (glycogen storage disease type V: abnormal skeletal muscle glycogen utilization). 31P-magnetic resonance spectroscopy, which gives characteristic spectra with anaerobic muscle work, provided the diagnosis, which was confirmed by measurement of myophosphorylase activity in a muscle biopsy (zero activity). After two dialysis sessions and alkalinization of the urine diuresis again occurred and the retention indicators fell to normal in the course of the subsequent 18 months. Creatinine kinase activity remained elevated.

摘要

一名44岁男性在剧烈体力活动后出现急性肾衰竭,并伴有红棕色尿液。自童年起,他的身体能力就已知受限。肌肉工作后曾出现肌肉硬结、痉挛和疼痛。住院前一天血清肌酐水平为10.0mg/dl,肌酸激酶活性3790U/l,乳酸脱氢酶活性670U/l,肌红蛋白水平701ng/ml。横纹肌溶解的病因被认为是麦卡德尔病(糖原贮积病V型:骨骼肌糖原利用异常)。31P磁共振波谱在无氧肌肉工作时可给出特征性光谱,据此做出诊断,肌肉活检中肌磷酸化酶活性测定(活性为零)证实了该诊断。经过两次透析治疗及尿液碱化后,利尿再次出现,在随后的18个月中潴留指标降至正常。肌酸激酶活性仍升高。

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