Late-onset Pompe's disease in a hemodialysis patient: A first case report

A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT-scan and cerebrum MRI, electrophysiological study revealed myopathy. Because besides lordosis and limb-girdle gait the patient was ambulant the possibility of late-onset Pompe's disease was set and confirmed with evaluation of α-glucosidase activity and genetic analysis. Enzyme replacement therapy (ERT) with aglucosidase alfa was started. Due to inaccessibility of veins in the arm without the arteriovenous fistula, during the last 1 year, the patient received the ERT through the venous line of the hemodialysis circuit. Three years later the patient remains ambulant without the need of any assistant device and preserved his pulmonary function. This is the first described case of late-onset Pompe's disease in a hemodialysis patient treated with ERT.