title: [McArdle disease presenting with rhabdomyolisis and acute kidney injury].
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 case-report underlines the importance of considering metabolic myopathy in patients with acute kidney injury and severe rhabdomyolisis.
authors.affiliation: Serviço de Nefrologia. Centro Hospitalar de Trás-os-Montes e Alto Douro. Vila Real. Portugal.. ruimiguelccosta@gmail.com.
authors.forename: Rui
authors.initials: R
authors.lastname: Costa
authors.forename: Rui
authors.initials: R
authors.lastname: Castro
authors.forename: Alexandre
authors.initials: A
authors.lastname: Costa
authors.forename: Ricardo
authors.initials: R
authors.lastname: Taipa
authors.forename: Ramon
authors.initials: R
authors.lastname: Vizcaíno
authors.forename: Teresa
authors.initials: T
authors.lastname: Morgado
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D000328:Adult; D006012:Glycogen Storage Disease Type V / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D012206:Rhabdomyolysis / Q000209:etiology*