Delibaş Ali, Bek Kenan, Ezgü Fatih Süheyl, Demircin Gülay, Oksal Ayşegül, Oner Ayşe
Department of Pediatric Nephrology, Mersin University Faculty of Medicine, Mersin, Turkey.
Eur J Pediatr. 2008 Aug;167(8):939-40. doi: 10.1007/s00431-007-0591-z. Epub 2007 Sep 26.
Rhabdomyolysis induced acute renal failure (ARF) is relatively rare in children. We report an 8-year-old boy with McArdle disease and rhabdomyolysis induced ARF after heavy muscle work. Physical examination revealed generalized tenderness on his extremities. Laboratory examinations showed acute renal failure due to myoglobinuria and revealed alanine transaminase 428 U/l, aspartate transaminase 1,400 U/l, blood urea nitrogen 119 mg/dl, creatinin 3.6 mg/dl, uric acid 13 mg/dl, and serum creatinine kinase (CK) 33,766 U/l. Hemodialysis was carried out for ARF. His clinical and laboratory findings improved and became normal in 2 weeks. Enzymatic analysis of the muscle biopsy showed a phosphorylase A level of 129 nmol/s/mg protein (normal: 200-600) and a phosphorylase A+B level of 385 nmol/s/mg protein (normal: 500-1500), which was compatible with glycogenosis type V. As McArdle disease rarely becomes symptomatic and ARF secondary to this condition is very rare, our case represents a rare clinical presentation.
横纹肌溶解症所致急性肾衰竭(ARF)在儿童中相对少见。我们报告一名8岁患麦克尔迪氏病的男孩,在剧烈肌肉活动后发生横纹肌溶解症并导致ARF。体格检查发现其四肢有广泛性压痛。实验室检查显示因肌红蛋白尿导致急性肾衰竭,谷丙转氨酶428 U/l,谷草转氨酶1400 U/l,血尿素氮119 mg/dl,肌酐3.6 mg/dl,尿酸13 mg/dl,血清肌酸激酶(CK)33766 U/l。针对ARF进行了血液透析。其临床和实验室检查结果在2周内得到改善并恢复正常。肌肉活检的酶分析显示磷酸化酶A水平为129 nmol/s/mg蛋白(正常:200 - 600),磷酸化酶A + B水平为385 nmol/s/mg蛋白(正常:500 - 1500),这与Ⅴ型糖原贮积病相符。由于麦克尔迪氏病很少出现症状,继发于此病的ARF非常罕见,我们的病例代表了一种罕见的临床表现。