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CEN Case Reports

, Volume 6, Issue 2, pp 156–160 | Cite as

McArdle disease: a “pediatric” disorder presenting in an adult with acute kidney injury

  • Xixi ZhaoEmail author
  • Angela Li
  • Madhu Soni
  • Michael J. Muriello
  • Carolyn H. Jones
  • William L. Whittier
Case report

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.

Keywords

McArdle disease Adult Rhabdomyolysis Metabolic myopathies 

Notes

Compliance with ethical standards

Conflict of interest

The authors have declared that no conflict of interest exists.

Human and animal rights statement

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Gabow PA, Kaehny WD, Kelleher SP. The spectrum of rhabdomyolysis. Medicine. 1982;61(3):141–52.CrossRefGoogle Scholar
  2. 2.
    Ward MM. Factors predictive of acute renal failure in rhabdomyolysis. Arch Intern Med. 1988;148(7):1553–7.CrossRefGoogle Scholar
  3. 3.
    Elsayed EF, Reilly RF. Rhabdomyolysis: a review, with emphasis on the pediatric population. Pediatr Nephrol. 2010;25(1):7–18.CrossRefGoogle Scholar
  4. 4.
    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.CrossRefGoogle Scholar
  5. 5.
    Pearson CM, Rimer DG, Mommaerts WFHM. A metabolic myopathy due to absence of muscle phosphorylase. Am J Med. 1961;30(4):502–17.CrossRefGoogle Scholar
  6. 6.
    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.CrossRefGoogle Scholar
  7. 7.
    Quinlivan R, Jungbluth H. Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol. 2012;54(10):886–91.CrossRefGoogle Scholar
  8. 8.
    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.CrossRefGoogle Scholar
  9. 9.
    Laforêt P, Vianey-Saban C. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord. 2010;20(11):693–700.CrossRefGoogle Scholar
  10. 10.
    Pfeffer G, Chinnery PF. Diagnosis and treatment of mitochondrial myopathies. Ann Med. 2013;45(1):4–16.CrossRefGoogle Scholar
  11. 11.
    Scalco RS, Gardiner AR, Pitceathly RDS. Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis. 2015;10(1):51.CrossRefGoogle Scholar
  12. 12.
    Bosch X, Poch E, Grau JM, et al. Rhabdomyolysis and acute kidney injury. N Engl J Med. 2009;361(1):62–72.CrossRefGoogle Scholar
  13. 13.
    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.CrossRefGoogle Scholar
  14. 14.
    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.CrossRefGoogle Scholar
  15. 15.
    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.CrossRefGoogle Scholar
  16. 16.
    Kao DP, Kohrt HE, Kugler K. Renal failure and rhabdomyolysis associated with sitagliptin and simvastatin use. Diabet Med. 2008;25(10):1229–30.CrossRefGoogle Scholar
  17. 17.
    Yokayama M, Izumiya Y, Yoshizawa M, et al. Acute rhabdomyolysis associated with troglitazone. Diabetes Care. 2000;23:421–2.CrossRefGoogle Scholar
  18. 18.
    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.CrossRefGoogle Scholar
  19. 19.
    Slim R, Salem CB, Zamy M, et al. Pioglitazone-induced acute rhabdomyolysis. Diabetes Care. 2009;7:e84.CrossRefGoogle Scholar
  20. 20.
    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.CrossRefGoogle Scholar
  21. 21.
    Harris CR, Brown A. Synthetic cannabinoid intoxication: a case series and review. J Emerg Med. 2013;44(2):360–6.CrossRefGoogle Scholar
  22. 22.
    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.CrossRefGoogle Scholar
  23. 23.
    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.CrossRefGoogle Scholar
  24. 24.
    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.CrossRefGoogle Scholar
  25. 25.
    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.PubMedPubMedCentralGoogle Scholar
  26. 26.
    Dubowitz V, et al. Muscle biopsy: a practical approach. Amsterdam: Elsevier Health Sciences; 2013. p. 89.Google Scholar

Copyright information

© Japanese Society of Nephrology 2017

Authors and Affiliations

  1. 1.Department of Internal Medicine and PediatricsRush University Medical CenterChicagoUSA
  2. 2.Department of Neurological SciencesRush University Medical CenterChicagoUSA
  3. 3.McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreUSA
  4. 4.Department of Clinical GeneticsRush University Medical CenterChicagoUSA
  5. 5.Department of NephrologyRush University Medical CenterChicagoUSA

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