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Late ‐onset Pompe's disease in a hemodialysis patient: A first case report
Abstract 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...
Source: Hemodialysis International - October 3, 2017 Category: Hematology Authors: Theodoros Eleftheriadis, Panagiota Makri, Paschalia Karakosta, Georgios Pissas, Vassilios Liakopoulos, Helen Michelakakis, Georgios M. Hadjigeorgiou, Ioannis Stefanidis Tags: Case Report Source Type: research

The nature, consequences, and management of neurological disorders in chronic kidney disease
This article provides an overview of the available data on the nature, prevalence, pathophysiology, consequences and treatment of neurological complications of CKD.
Source: Hemodialysis International - July 1, 2017 Category: Hematology Authors: Bahman Jabbari, Nosratola D. Vaziri Tags: Review Article Source Type: research