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KMID : 1146120180040010007
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Journal of Mucopolysaccharidosis and Rare Diseases
2018 Volume.4 No. 1 p.7 ~ p.10
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Enzyme Replacement Therapy for Lysosomal Storage Disease in Indonesia
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Sjarif Damayanti Rusli
Hafifah Cut Nurul
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Abstract
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Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2,000 people in a population), which includes lysosomal storage diseases. These diseases are often seen as unimportant especially in developing countries, such as Indonesia, due to small number of patients. National Rare Disease Center in Indonesia was pioneered almost 20 years ago and officially established in 2017 by the Indonesian Minister of Health. Lysosomal storage disease become the most commonly found inborn errors of metabolism (IEM) in Indonesia due to easily accessible diagnostic facilities. Currently there are 7 patients receiving ERT in this mixed-donation scheme, one patient with Gaucher disease and 6 patients with MPS type II. Few challenges for ERT in Indonesia include importation through special access scheme, preparation of ERT infusion in intensive care settting, and cost of treatment. Even with limited resources, healthcare professionals in Indonesia have been giving the best care possible for rare disease patients, especially to provide diagnostic facilities through collaboration and treatment options for treatable rare diseases. Improvements in care for rare disease patients are still needed.
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KEYWORD
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Mucopolysaccharidoses, Enzyme replacement therapy, Indonesia, Rare diseases
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