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Pigment Nephropathy in a Patient With PYGM Gene Mutation

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INTRODUCTION R habdomyolysis is a clinical syndrome characterized by injury to skeletal muscle cells causing leakage of muscle-cell contents into the circulation leading to myoglobinuria. Acute kidney injury is a… Click to show full abstract

INTRODUCTION R habdomyolysis is a clinical syndrome characterized by injury to skeletal muscle cells causing leakage of muscle-cell contents into the circulation leading to myoglobinuria. Acute kidney injury is a complication of severe rhabdomyolysis. There are many reported causes of rhabdomyolysis. Rhabdomyolysis secondary to genetic defects is commonly overlooked. Diagnostic delay is common, hence a high index of suspicion is required for diagnosis due to its rarity. After diagnosis, further episodes of rhabdomyolysis, renal injury, and other complications can be prevented. Here, we report a case of an adolescent female patient presenting with rhabdomyolysis secondary to McArdle disease, a genetic disease causing defective glycogenolysis leading to acute kidney injury.

Keywords: pigment nephropathy; rhabdomyolysis; nephropathy patient; patient pygm; injury

Journal Title: Kidney International Reports
Year Published: 2019

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