Publication at Second Faculty of Medicine |
2017
Abstract
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.