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DOI: 10.18544/PEDM-23.02.0082
Pediatr Endocrino Diabetes Metab 2017;23,2:111-116

Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II

Karolina Orchel-Szastak, Katarzyna Ptak, Katarzyna Hrnciar, Bożena Pilch, Urszula Kania, Mirosław Bik-Multanowski

Key words

mucopolysaccharidosis type II, Hunter disease, enzyme replacement therapy, idursulfase

Abstract

We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course.


Article published in polish language



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DOI: 10.18544/PEDM-23.02.0082
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Pediatric Endocrinology Diabetes and Metabolism

2018; 24, 2: 51-110
2018; 24, 1: 1-50
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2017; 23, 3: 117-168
2017; 23, 2: 59-116
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