Mcardle Disease Presenting with Rhabdomyolisis and Acute Kidney Injury

Authors

  • Rui Costa Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.
  • Rui Castro Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.
  • Alexandre Costa Serviço de Neurologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.
  • Ricardo Taipa Serviço de Neuropatologia. Centro Hospitalar do Porto. Porto. Portugal.
  • Ramon Vizcaíno Serviço de Anatomia Patológica. Centro Hospitalar do Porto. Porto. Portugal.
  • Teresa Morgado Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.

DOI:

https://doi.org/10.20344/amp.396

Abstract

McArdle disease typically presents in childhood or young adults with myalgia, exercise intolerance, cramps and myoglobinuria. Deficiency of myophosphorylase enzyme results in inability to degrade glycogen stores, causing glycogen accumulation in muscle tissue and energy deficit. Evolution with rhabdomiolysis may occur and can be complicated with acute kidney injury but rarely, in about 11% of cases, is the initial disease manifestation. We report a case of McArdle Disease in a 38-year-old male patient. The disease went unrecognized despite previous symptoms (myalgia, exercise intolerance and single myoglobinuria episode) until an episode of rhabdomyolisis
complicated with oliguric acute kidney injury requiring hemodialysis. The kidney biopsy showed evidence of acute tubular necrosis. Despite normalization of renal function, muscle lysis markers remained abnormal. Metabolic myopathy was suspected and a muscle biopsy was performed. It showed subsarcolemic glycogen deposition and absence of myophosphorylase activity. This casereport underlines the importance of considering metabolic myopathy in patients with acute kidney injury and severe rhabdomyolisis.

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Author Biographies

Rui Costa, Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.

Rui Castro, Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.

Alexandre Costa, Serviço de Neurologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.

Ricardo Taipa, Serviço de Neuropatologia. Centro Hospitalar do Porto. Porto. Portugal.

Ramon Vizcaíno, Serviço de Anatomia Patológica. Centro Hospitalar do Porto. Porto. Portugal.

Teresa Morgado, Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.

Published

2013-08-30

How to Cite

1.
Costa R, Castro R, Costa A, Taipa R, Vizcaíno R, Morgado T. Mcardle Disease Presenting with Rhabdomyolisis and Acute Kidney Injury. Acta Med Port [Internet]. 2013 Aug. 30 [cited 2024 Jun. 24];26(4):463-6. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/396

Issue

Section

Case Report