Noshad Hamid, Sadreddini Shahram, Ghaffari Ali Reza
Division of Nephrology, Department of Medicine, Sina Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
Iran J Kidney Dis. 2008 Oct;2(4):234-6.
We present an adolescent with McArdle disease and recurrent acute kidney failure due to rhabdomyolysis. The patient was admitted with acute kidney failure for 3 times and due to a history of proximal weakness, fatigue, and muscular cramps after physical activities a glycogen-storage disease was suspected. Serum creatine phosphokinase and urine myoglobin were found to be elevated. McArdle disease was diagnosed based on pathologic examination of muscle tissue specimen. Patients presenting with rhabdomyolysis following strenuous exercise should be evaluated for McArdle disease.
我们报告了一名患有麦克尔迪氏病并因横纹肌溶解症反复出现急性肾衰竭的青少年。该患者因急性肾衰竭入院3次,由于有近端肌无力、疲劳以及体育活动后肌肉痉挛的病史,怀疑患有糖原贮积病。发现血清肌酸磷酸激酶和尿肌红蛋白升高。基于肌肉组织标本的病理检查诊断为麦克尔迪氏病。剧烈运动后出现横纹肌溶解症的患者应评估是否患有麦克尔迪氏病。