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[Rhabdomyolysis of rare etiology]
E Thassilo von Loesch1, Mustafa Bačinović2, Anna-Lena Farwick2
1Klinik für Hämatologie, Onkologie und Nephrologie, Stammzelltransplantation, Agaplesion Diakonie Klinikum Rotenburg, Elise-Averdieck-Str. 17, 27356, Rotenburg/Wümme, Deutschland. thassilo.vonloesch@diako-online.de.
Innere Medizin (Heidelberg, Germany)
|June 9, 2023
Summary
McArdle disease, a genetic metabolic myopathy, can cause severe rhabdomyolysis and kidney failure. Early diagnosis via genetic testing and avoiding strenuous exercise are key to preventing complications.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Context:
- A 40-year-old male presented with anuria, dark urine, rhabdomyolysis, and crush kidney.
- Initial presentation suggested acute kidney injury requiring hemodialysis.
Purpose:
- To diagnose the underlying cause of severe rhabdomyolysis and acute kidney injury.
- To identify a rare metabolic myopathy through genetic analysis.
Summary:
- Patient history and next-generation sequencing confirmed Glycogen Storage Disease type V (McArdle disease), caused by PYGM gene mutations.
- McArdle disease is a metabolic myopathy leading to muscle breakdown and potential kidney failure.
Impact:
- Highlights the importance of considering metabolic myopathies in patients with unexplained rhabdomyolysis and acute kidney injury.
- Emphasizes genetic testing for accurate diagnosis of rare diseases.
- Underscores the critical role of exercise management in preventing rhabdomyolysis in patients with McArdle disease.
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