Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland
Keywords
Pompe disease, alglucosidade alpha, chromosome 17, glycogen storage disease type iiAbstract
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycogen storage in lysosomes which appears as disfunction of tissues, especially cardiac muscle and skeletal muscles. In Poland, we have two common and very simple methods to diagnose Pompe disease. First test is dried blood spot (DBS), second is full peripheral blood test. Currently, in Poland, drug containing alglucosidase alpha is refunded. Drug is available as powder for infusion. Periodic assessment of therapy effectiveness is performed at least every 6 months based on rating the patient's clinical condition and assessment of the effectiveness of the therapy used.Downloads
Published
2019-09-22
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JANECZKO, Dominika Anna, ORZEŁ, Anna, KLATKA, Barbara, HOŁOWCZUK, Magdalena and SZLICHTA, Grzegorz. Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland. Journal of Education, Health and Sport. Online. 22 September 2019. Vol. 9, no. 9, pp. 703-707. [Accessed 12 December 2024].
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