Pediatr. praxi. 2016;17(3):146-149 | DOI: 10.36290/ped.2016.033
How to diagnose and treat hypophosphatasia
- Pediatrická klinika 2. LF UK a FN v Motole, Praha
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
Published: August 1, 2016 Show citation
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