Hypophosphatasia – skeletal disease requiring our attention
Authors:
Š. Kutílek 1; Z. Šumník 2
Authors‘ workplace:
Dětské oddělení Klatovské nemocnice a. s., Klatovy
1; Pediatrická klinika 2. lékařské fakulty a Fakultní nemocnice Motol, Praha
2
Published in:
Čes-slov Pediat 2017; 72 (4): 228-231.
Category:
Overview
Hypophosphatasia is an inborn, severe disorder resulting from loss-of-function of alkaline phosphatase. Typical signs include skeletal demineralisation, recurrent fractures, growth failure, convulsions, respiratory failure. Hypophosphatasia is divided into perinatal, infantile, juvenile and adult forms and odontohypophosphatasia. Treatment rests in enzyme replacement therapy with asfotase alpha, which improves bone mineralisation and overall improvement of the patients. It is necessary to properly diagnose hypophosphatasia, as current treatment is beneficial for the affected children.
Key words:
alkaline phosphatase, bone, asfotase
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2017 Issue 4
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