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McArdle's disease presenting with acute renal failure
Ajesh Basantharan Maharaj1, Vinod Patel
1Department of Internal Medicine, Prince Mshiyeni Memorial Hospital and School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa; Division of Clinical Immunology and Rheumatology, Academic Medical Center/University of Amsterdam, Netherlands. maharaja30@ukzn.ac.za.
Summary
This case study highlights a patient with acute renal failure caused by rhabdomyolysis, who was subsequently diagnosed with McArdle's disease. This finding underscores the importance of investigating metabolic myopathies in unexplained rhabdomyolysis.
Area of Science:
- Nephrology
- Neurology
- Metabolic Disorders
Background:
- Acute renal failure is a serious complication that can arise from various underlying conditions.
- Rhabdomyolysis, the breakdown of muscle tissue, can lead to acute kidney injury.
- McArdle's disease, a glycogen storage disorder, can manifest with muscle symptoms.
Purpose of the Study:
- To present an unusual case of acute renal failure secondary to rhabdomyolysis.
- To identify the underlying cause of rhabdomyolysis in this patient.
- To highlight the association between McArdle's disease and rhabdomyolysis-induced renal failure.
Main Methods:
- Case report detailing patient presentation and diagnostic workup.
- Clinical assessment for acute renal failure and rhabdomyolysis.
- Diagnostic investigations to determine the etiology of muscle breakdown.
Main Results:
- The patient presented with symptoms indicative of acute renal failure.
- Rhabdomyolysis was confirmed as the cause of renal impairment.
- Further investigations revealed the patient had McArdle's disease.
Conclusions:
- McArdle's disease should be considered in the differential diagnosis of patients presenting with rhabdomyolysis and acute kidney injury.
- Early diagnosis of McArdle's disease can guide management and potentially prevent further complications.
- This case emphasizes the link between metabolic myopathies and renal health.
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