Diagnostik og behandling af hypofosfatasi

Nicola Hepp; Anja Lisbeth Frederiksen; Jalda Khosravi; Jens Erik Beck Jensen

Diagnostik og behandling af hypofosfatasi

Translated title of the contribution: Diagnostics and treatment of hypophosphatasia

Nicola Hepp, Anja Lisbeth Frederiksen, Jalda Khosravi, Jens Erik Beck Jensen

Research output: Contribution to journal › Review article › peer-review

Abstract

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.

Translated title of the contribution	Diagnostics and treatment of hypophosphatasia
Original language	Danish
Article number	V10170736
Journal	Ugeskrift for laeger
Volume	180
ISSN	0041-5782
Publication status	Published - 27 Aug 2018
Externally published	Yes

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title = "Diagnostik og behandling af hypofosfatasi",

abstract = "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.",

author = "Nicola Hepp and Frederiksen, {Anja Lisbeth} and Jalda Khosravi and Jensen, {Jens Erik Beck}",

note = "Udgivet i Ugeskrift for L{\ae}ger 2019 vol. 181 nr. 10",

year = "2018",

month = aug,

day = "27",

language = "Dansk",

volume = "180",

journal = "Ugeskrift for laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

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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 -

Diagnostik og behandling af hypofosfatasi

Abstract

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