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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Immunoglobulin abnormalities and effects of enzyme replacement therapy in children with Gaucher disease
Zeynep Arıkan-Ayyıldız1, Aysel Yuce, Nuray Uslu-Kızılkan
1Faculty of Medicine, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, Hacettepe University, Ankara Turkey. ztarikan@hotmail.com
Abstract:
Hyperimmunoglobulinemia is documented in patients with Gaucher disease of all ages. We investigated the frequency of hyperimmunoglobulinemia in 12 pediatric patients with type I and III Gaucher disease and the effects of enzyme replacement therapy on these abnormalities. The incidence of hyperimmunoglobulinemia was 77%, 66%, and 60% at the diagnosis, before and after ERT, respectively. Immunoglobulin G abnormalities were the most commonly seen isotype abnormality. After enzyme replacement therapy normalization of IgA and IgM levels were recorded but decline in IgG levels was less likely to occur. This study indicated the higher frequency of hyperimmunoglobulinemia in pediatric Gaucher patients.
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