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Hypophosphatasie: Symptome, Diagnose, Therapie

  • Roland KocijanEmail author
  • Sebastian Simon
  • Jochen Zwerina
  • Heinrich Resch
Originalien
  • 16 Downloads

Zusammenfassung

Hypophosphatasie (HPP) ist eine seltene genetische Erkrankung, die durch eine reduzierte Aktivität der alkalischen Phosphatase (ALP) charakterisiert ist. Das klinische Bild ist äußerst variabel. Oft erfolgt die Diagnose spät, da die Symptome anderen, vor allem rheumatologischen oder osteologischen Erkrankungen ähneln. Asfotase alfa ist eine Enzymersatztherapie, die bei Patienten indiziert ist, bei denen die HPP im Kindes- und Jugendalter aufgetreten ist, um die Knochenmanifestationen zu behandeln. Antiresorptive Medikamente sind bei HPP kontraindiziert.

Schlüsselwörter

Alkalische Phosphatase Hypophosphatasie Frakturen Asfotase alfa Pyridoxal 5’-Phosphat Arthralgien 

Hypophosphatasia: symptoms, diagnosis, therapy

Abstract

Hypophosphatasia (HPP) is a rare genetic disorder caused by reduced activity of alkaline phosphatase (ALP). The clinical appearance is highly variable. The diagnosis often happens late because symptoms are similar to other rheumatological and osteological diseases. Asfotase alfa is an enzyme replacement therapeutic for the treatment of bone manifestations induced in patients diagnosed with HPP in childhood or adolescence. Antiresorptive agents are contraindicated in HPP.

Keywords

Alkaline Phosphatase Hypophosphatasia Fractures Asfotase alfa Pyridoxal 5’-Phosphate Arthralgia 

Notes

Einhaltung ethischer Richtlinien

Interessenkonflikt

R. Kocijan und H. Resch erhalten einen Researchgrant und Vortragshonorarien der Firma ALEXION. S. Simon und J. Zwerina geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Copyright information

© Springer-Verlag GmbH Austria, ein Teil von Springer Nature 2019

Authors and Affiliations

  • Roland Kocijan
    • 1
    • 2
    Email author
  • Sebastian Simon
    • 1
    • 3
  • Jochen Zwerina
    • 1
    • 2
  • Heinrich Resch
    • 3
    • 4
  1. 1.1. Medizinische AbteilungHanusch Krankenhaus der WGKKWienÖsterreich
  2. 2.Ludwig Boltzmann-Institut für OsteologieHanusch Krankenhaus der WGKK und AUVA Trauma Zentrum Meidling, Wien, ÖsterreichWienÖsterreich
  3. 3.2. Medizinische Abteilung, The VINFORCE Study GroupBarmherzige Schwestern Krankenhaus WienWienÖsterreich
  4. 4.Medical Faculty of Bone DiseasesSigmund Freud Privatuniversität WienWienÖsterreich

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