McArdle disease presenting as acute renal failure.
In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen storage disease V [GSDV]) in a patient who had sickle cell trait and bulimia. The disease went unrecognized despite several admissions to the hospital with increased creatine kinase and muscle myopathy until the patient's initial presentation with acute renal failure.
Pillarisetti
Jayasree
J
University of Missouri, Kansas City School of Medicine, Kansas City, MO, USA. jayasreep24@gmail.com
Ahmed
Awad
A
D058186:Acute Kidney Injury / Q000175:diagnosis*; D000328:Adult; D002032:Bulimia / Q000150:complications; D003402:Creatine Kinase / Q000097:blood; D003404:Creatinine / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D012206:Rhabdomyolysis / Q000175:diagnosis; D012805:Sickle Cell Trait / Q000150:complications
D003404:Creatinine; D003402:Creatine Kinase