{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:20Z","timestamp":1756425800012,"version":"3.44.0"},"reference-count":26,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,1,9]]},"abstract":"<jats:p>We present a case of a 51-year-old man who went to the emergency department after an almost-drowning episode, presenting with muscular weakness, myalgia and dark urine. Laboratory data showed a severe rhabdomyolysis (creatine kinase 497\u2009510\u2009U\/L). Despite aggressive fluid therapy, an oliguric acute kidney injury was established with temporary need of haemodialysis. The patient had a longtime history of exercise intolerance and family history of a metabolic myopathy, namely a sister with McArdle\u2019s disease. The genetic test was positive. McArdle\u2019s disease is an autosomal recessive disorder caused by mutations in the muscle glycogen phosphorylase gene that encodes the myophosphorylase. The main symptom consists in exercise intolerance and the most severe complication is rhabdomyolysis with acute renal failure. Metabolic myopathies, such as McArdle\u2019s disease, should be considered in patients with acute renal failure due to unexplained severe rhabdomyolysis, especially if there are chronic complaints of exercise intolerance and positive family history.<\/jats:p>","DOI":"10.1136\/bcr-2017-223437","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T03:45:13Z","timestamp":1517456713000},"page":"bcr-2017-223437","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Wave of renal impairment"],"prefix":"10.1136","volume":"2018","author":[{"given":"Helena","family":"Pinto","sequence":"first","affiliation":[{"name":"Department of Nephrology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Catarina","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuno","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Alves","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Centro Hospitalar e Universit\u00e1rio de Coimbra, Coimbra, Portugal"},{"name":"Cl\u00ednica Universit\u00e1ria de Nefrologia, Universidade de Coimbra Faculdade de Medicina, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,2,1]]},"reference":[{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.1","doi-asserted-by":"publisher","DOI":"10.1186\/2110-5820-3-8"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0082992","article-title":"Risk factors for acute kidney injury in severe rhabdomyolysis","volume":"8","author":"Rodr\u00edguez","year":"2013","journal-title":"PLoS One"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.3","doi-asserted-by":"publisher","DOI":"10.1345\/aph.1R215"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.4","doi-asserted-by":"publisher","DOI":"10.1186\/cc13897"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.5","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13054-016-1314-5","article-title":"Beyond muscle destruction: a systematic review of rhabdomyolysis for clinical practice","volume":"20","author":"Chavez","year":"2016","journal-title":"Crit Care"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.6","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-200308000-00005"},{"key":"2025082801311546000_2018.jan31_2.bcr-2017-223437.7","doi-asserted-by":"crossref","unstructured":"Nogales-Gadea G , Santalla A , Brull A , et al . The pathogenomics of McArdle disease\u2014genes, enzymes, models, and therapeutic implications. 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Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). 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