Hypophosphatasia – skeletal disease requiring our attention
Authors:
Š. Kutílek 1; Z. Šumník 2
Authors place of work:
Dětské oddělení Klatovské nemocnice a. s., Klatovy
1; Pediatrická klinika 2. lékařské fakulty a Fakultní nemocnice Motol, Praha
2
Published in the journal:
Čes-slov Pediat 2017; 72 (4): 228-231.
Category:
Summary
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
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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