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Acute renal failure due to rhabdomyolysis in a child with McArdle disease
Authors:Ali Delibaş  Kenan Bek  Fatih Süheyl Ezgü  Gülay Demircin  Ayşegül Oksal  Ayşe Öner
Affiliation:Department of Pediatric Nephrology, Mersin University Faculty of Medicine, Mersin, Turkey, delibas@mersin.edu.tr.
Abstract:
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.
Keywords:Glycogen storage disease type V  Rhabdomyolysis  Acute renal failure  Childhood  Treatment
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