TY - JOUR
T1 - Diagnostik og behandling af hypofosfatasi
AU - Hepp, Nicola
AU - Frederiksen, Anja Lisbeth
AU - Khosravi, Jalda
AU - Jensen, Jens Erik Beck
N1 - Udgivet i Ugeskrift for Læger 2019 vol. 181 nr. 10
PY - 2018/8/27
Y1 - 2018/8/27
N2 - 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 alkaline phosphatase 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 contra-indicated for these patients. Finally, enzyme replacement therapy has opened new therapeutic perspectives regarding severe HPP.
AB - 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 alkaline phosphatase 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 contra-indicated for these patients. Finally, enzyme replacement therapy has opened new therapeutic perspectives regarding severe HPP.
UR - http://www.scopus.com/inward/record.url?scp=85074234467&partnerID=8YFLogxK
M3 - Review (oversigtsartikel)
C2 - 30152322
AN - SCOPUS:85074234467
SN - 0041-5782
VL - 180
JO - Ugeskrift for laeger
JF - Ugeskrift for laeger
M1 - V10170736
ER -