Pediatria pre prax 6/2016

How to diagnose and treat hypophosphatasia

Hypophosphatasia (HPP) is a rare disease caused by insufficient production of alkaline phosphatase (ALP). Main symptoms of HPP are skeletal demineralisation and severe extraskeletal complications, i.e. respiratory failure, seizures, craniosynostosis, nephrocalcinosis or developmental delay. Diagnostics of HPP is simple, based on low serum ALP accompanied by clinical symptoms. Enzymatic substitution with recombinant ALP, which completely changed life prognosis of the most severe patients, is available since 2015. This review summarizes current knowledge on aetiology, forms, diagnostics and therapy with a special attention on the role of paediatrician in recognition of this disorder.

Keywords: hypophosphatasia, alkaline phosphatase, children, fraktures