Abstract
McArdle disease (glycogen storage disease type V) is a rare hereditary metabolic myopathy. It can be overlooked clinically because it often presents as chronic asymptomatic hypercreatine phosphokinasemia (hyperCKemia). However, vigorous exercise or infections can trigger severe rhabdomyolysis. We present the case of a patient with long-term idiopathic hyperCKemia who, after contracting an upper respiratory tract infection, developed severe rhabdomyolysis and acute kidney injury. Upon hemodialysis, his renal function recovered and CK levels fell to below baseline, and maintenance therapy with vitamin B6 was also started. A molecular diagnosis of McArdle disease was subsequently made. Whole-exome sequencing revealed homozygous c1538delG (p.Asp511Thr fs*28) mutations in the PYGM gene, which was a novel mutation. Therefore, when investigating idiopathic hyperCKemia, glycogen storage disorders should also be considered.
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Acknowledgements
We thank Takashi Kurashige (Department of Neurology, National Hospital Organization Kure Medical Center) for performing the muscle biopsy on our patient. We thank Dr. Ichizo Nishino (National Institute of Neuroscience, National Center of Neurology and Psychiatry) for evaluating enzymatic activities. We thank Simon Teteris, PhD, from the Edanz Group (http://www.edanzediting.com/ac), for editing the English text of a draft of this manuscript.
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All authors treated the patient and made decisions about the patient’s examinations and therapies. AS and SH reviewed previous publications and drafted the manuscript. TM supervised the manuscript. AS, SH, TA, YY, and TI were the patient’s principal physicians and treated him as an inpatient and outpatient. HI, AM, and SY drafted the diagnostic direction from the perspective of a neurologist, which led to a definite diagnosis. All authors contributed to the interpretation of the etiology and discussion. All authors read and approved the final manuscript.
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Satoh, A., Hirashio, S., Arima, T. et al. Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep 8, 194–199 (2019). https://doi.org/10.1007/s13730-019-00392-6
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DOI: https://doi.org/10.1007/s13730-019-00392-6