Abstract
Rhabdomyolysis is characterized by the acute breakdown of skeletal muscle, resulting in the release of muscle cell contents, subsequent myoglobinuria, and in severe cases, acute renal failure. A number of etiologies have been identified in acute rhabdomyolysis, in which drugs and trauma account for the majority of cases. One etiological category that is commonly overlooked in the adult population is an underlying genetic defect. This may be challenging to diagnose due to its rarity in the adult demographic and the marked heterogeneity, often requiring a high level of clinical suspicion before investigation is pursued. Once diagnosed, however, appropriate steps can be taken to reduce future episodes of rhabdomyolysis, further renal injury, and other systemic complications. Here, we report a case of an adult patient presenting with acute rhabdomyolysis secondary to McArdle disease, a genetic disease causing defective glycogenolysis. The case highlights the importance of recognizing the potential of undiagnosed “pediatric” disorders in adulthood and particularly for underlying genetic causes of rhabdomyolysis.
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References
Gabow PA, Kaehny WD, Kelleher SP. The spectrum of rhabdomyolysis. Medicine. 1982;61(3):141–52.
Ward MM. Factors predictive of acute renal failure in rhabdomyolysis. Arch Intern Med. 1988;148(7):1553–7.
Elsayed EF, Reilly RF. Rhabdomyolysis: a review, with emphasis on the pediatric population. Pediatr Nephrol. 2010;25(1):7–18.
Rubio JC, Lucia A, Fernández-Cadenas I, et al. Novel mutation in the PYGM gene resulting in McArdle disease. Arch Neurol. 2006;63(12):1782–4.
Pearson CM, Rimer DG, Mommaerts WFHM. A metabolic myopathy due to absence of muscle phosphorylase. Am J Med. 1961;30(4):502–17.
Lucia A, Nogales-Gadea G, Pérez M, et al. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. 2008;4(10):568–77.
Quinlivan R, Jungbluth H. Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol. 2012;54(10):886–91.
Thuillier L, Rostane H, Droin V, et al. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat. 2003;21(5):493–501.
Laforêt P, Vianey-Saban C. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord. 2010;20(11):693–700.
Pfeffer G, Chinnery PF. Diagnosis and treatment of mitochondrial myopathies. Ann Med. 2013;45(1):4–16.
Scalco RS, Gardiner AR, Pitceathly RDS. Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis. 2015;10(1):51.
Bosch X, Poch E, Grau JM, et al. Rhabdomyolysis and acute kidney injury. N Engl J Med. 2009;361(1):62–72.
Scalco RS, Snoeck M, Quinlivan R, et al. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med. 2016;2:e000151.
Galea M, Jelacin N, Bramham K, et al. Severe lactic acidosis and rhabdomyolysis following metformin and ramipril overdose. Br J Anaesth. 2007;98(2):213–5.
Ursini F, Succurro E, Grembiale A, et al. Acute rhabdomyolysis during treatment with amisulpride and metformin. Eur J Clin Pharmacol. 2010;66(3):321–2.
Kao DP, Kohrt HE, Kugler K. Renal failure and rhabdomyolysis associated with sitagliptin and simvastatin use. Diabet Med. 2008;25(10):1229–30.
Yokayama M, Izumiya Y, Yoshizawa M, et al. Acute rhabdomyolysis associated with troglitazone. Diabetes Care. 2000;23:421–2.
Ledl M, Hohenecker J, Francesconi C. Acute myopathy in a type 2 diabetic patient on combination therapy with metformin, fenofibrate, and rosiglitazone. Diabetologia. 2005;48:1996–8.
Slim R, Salem CB, Zamy M, et al. Pioglitazone-induced acute rhabdomyolysis. Diabetes Care. 2009;7:e84.
Koro CE, Sowell MO, Stender M, et al. The risk of myopathy associated with thiazolidinediones and statins in patients with type 2 diabetes: a nested case control analysis. Clin Ther. 2008;30(3):535–42.
Harris CR, Brown A. Synthetic cannabinoid intoxication: a case series and review. J Emerg Med. 2013;44(2):360–6.
Bhanushali GK, Jain G, Fatima H, et al. AKI associated with synthetic cannabinoids: a case series. Clin J Am Soc Nephrol. 2012;8(4):523–6.
Durand D, Delgado LL, de la Parra-Pellot DM, et al. Psychosis and severe rhabdomyolysis associated with synthetic cannabinoid use: a case report. Clin Schizophr Relat Psychoses. 2013;8(4):205–8.
Paul ABM, Simms L, Paul AE, et al. Not safe for consumption: synthetic cannabinoids causing fatal acute rhabdomyolysis in two young men. Int J Case Rep Images. 2016;7:431–5.
Zhao A, Tan M, Maung A, et al. Rhabdomyolysis and acute kidney injury requiring dialysis as a result of concomitant use of atypical neuroleptics and synthetic cannabinoids. Case Rep Nephrol. 2015;2015:235982.
Dubowitz V, et al. Muscle biopsy: a practical approach. Amsterdam: Elsevier Health Sciences; 2013. p. 89.
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Zhao, X., Li, A., Soni, M. et al. McArdle disease: a “pediatric” disorder presenting in an adult with acute kidney injury. CEN Case Rep 6, 156–160 (2017). https://doi.org/10.1007/s13730-017-0265-2
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DOI: https://doi.org/10.1007/s13730-017-0265-2