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Rev Med Suisse Romande ; 122(11): 539-41, 2002 Nov.
Article in French | MEDLINE | ID: mdl-12522938

ABSTRACT

Mc Ardle's disease is a genetic glycogenosis characterized by the accumulation of glycogen in skeletal muscle secondary to the deficiency of muscle glycogen phosphorylase. The clinical consequences are an exercise intolerance with rapid muscle fatigue and muscle pain combined with a myoglobinuria. We report the medical story of a 45 years old man who suffers from Mc Ardle disease for ten years. He holds his family's doctor because of an oliguria and a weight gain of 5 kg after one week of skiing and one afternoon of gardening. Moreover he complains of quadriceps muscle pains. His urine is orange-red. The supplementary examinations show a rhabdomyolysis and an acute renal failure. The patient benefits of a hemodialysis treatment with a progressive and complete recovery of his renal function after two weeks of treatment.


Subject(s)
Acute Kidney Injury/etiology , Glycogen Storage Disease Type V/complications , Acute Kidney Injury/therapy , Glycogen Storage Disease Type V/therapy , Humans , Male , Middle Aged , Renal Dialysis , Treatment Outcome
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