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

Endocrinology Unit

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
Journal	Ugeskrift for Laeger
Volume	10
Pages (from-to)	2-6
Number of pages	5
ISSN	0041-5782
Publication status	Published - 13 May 2019

Cite this

@article{fdab4318cee14691b2ab6632e10cd90d,

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.",

keywords = "Adult, Child, Child, Preschool, Diagnosis, Differential, Humans, Hypophosphatasia/classification, Infant, Tooth Loss/etiology",

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

year = "2019",

month = may,

day = "13",

language = "Dansk",

volume = "10",

pages = "2--6",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske L{\ae}geforening",

}

TY - JOUR

T1 - Diagnostik og behandling af hypofosfatasi

AU - Hepp, Nicola

AU - Frederiksen, Anja Lisbeth

AU - Khosravi, Jalda

AU - Jensen, Jens-Erik Beck

PY - 2019/5/13

Y1 - 2019/5/13

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.

KW - Adult

KW - Child

KW - Child, Preschool

KW - Diagnosis, Differential

KW - Humans

KW - Hypophosphatasia/classification

KW - Infant

KW - Tooth Loss/etiology

M3 - Review

C2 - 30152322

SN - 0041-5782

VL - 10

SP - 2

EP - 6

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

ER -

Diagnostik og behandling af hypofosfatasi

Abstract

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