First Case Report of McArdle Disease and Alive Renal Transplantation

McArdle disease (Glycogen storage disease type V, MIM #232600) is an inherited disorder of glycogen metabolism affecting only skeletal muscles. Case 56-year-old male patient had fatigue and muscle weakness begining from the age of eight. He was diagnosed with GSD type V at the age of 30. Despite the treatment, the patient had been followed up with chronic renal failure for the last 11 years most probably due to recurrent episodes of rhabdomyolysis. The patient underwent preemptive kidney transplantation from his wife due to the progression to end-stage renal disease. We report the first case of McArdle's disease who developed chronic renal failure and underwent kidney transplantation. We aim to present this process before and after the transplantation in order to contribute to the literature.

Cite this article as: Danış R, Kılıç J, Günay E, et al. First case report of McArdle disease and alive kidney transplantation. Turk J Nephrol. 2022;31(4):378-381.