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Diagnostik og behandling af hypofosfatasi

Forfatter(e)

Nicola Hepp1, Anja Lisbeth Frederiksen2, 3, Jalda Khosravi4 & Jens-Erik Beck Jensen1

1) Endokrinologisk Afdeling, Hvidovre Hospital 2) Klinisk Genetisk Afdeling, Odense Universitetshospital 3) Klinisk Institut, Syddansk Universitet 4) Det Sundhedsvidenskabelige Fakultet, Københavns Universitet Ugeskr Læger 2018;180:V10170736

Reference: 
Ugeskr Læger 2018;180:V10170736
Sidetal: 
2-6
Diagnostics and treatment of hypophosphatasia

Hypophosphatasia (HPP) is a rare inborn, metabolic bone disorder caused by mutations in the tissue-nonspecific alkaline phosphatase-encoding gene: ALPL. The diagnosis is based on biochemical, clinical and genetic evaluation. Low levels of ALP is a hallmark in diagnosing HPP. Mild forms may present unspecific symptoms and be more frequent than previously assumed. Adults with HPP may present with low bone mass, however, bisphosphonates are contra­indicated for these patients. Finally, enzyme replacement therapy has opened new therapeutic perspectives regarding severe HPP.

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