Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease

A previously healthy, white 12-year-old girl presented with diffuse body aches and poor perfusion. She developed severe respiratory failure and marked rhabdomyolysis and was mechanically ventilated. Although her CPK peaked at 500,000 IU/L, her renal function was mildly affected and her creatinine di...

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Detalles Bibliográficos
Autores principales: Spyropoulos, George, Kratimenos, Panagiotis, Mcinnes, Andrew D., DeGroote, Richard J., Koutroulis, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209763/
https://www.ncbi.nlm.nih.gov/pubmed/25371840
http://dx.doi.org/10.1155/2014/704398
Descripción
Sumario:A previously healthy, white 12-year-old girl presented with diffuse body aches and poor perfusion. She developed severe respiratory failure and marked rhabdomyolysis and was mechanically ventilated. Although her CPK peaked at 500,000 IU/L, her renal function was mildly affected and her creatinine did not exceed the 0.8 mg/dL. The rhabdomyolysis was gradually resolved following aggressive fluid hydration. The patient did not require dialysis and made a complete recovery. Genetic studies revealed the diagnosis of McArdle disease.

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