Content area

|
|

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
Blad nummer: 
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.

Du skal være logget ind for at læse denne artikel
Log ind

Right side

af Andreas Gothardt Lundh | 21/05
1 Kommentar
af Søren Dalsgaard | 20/05
1 Kommentar
af Anette Bygum | 19/05
10 kommentarer
af Hans-Iver G. F.-D Kley | 18/05
1 Kommentar
af Per Bonding | 17/05
1 Kommentar