Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling

Translated title of the contribution: Oesteogenesis imperfecta--genetics, diagnosis and medical treatment

Kim Brixen, Niels Illum, Birgitte Hansen, Allan Meldgaard Lund, Leif Mosekilde

Research output: Contribution to journalReviewResearch

Abstract

The molecular background for osteogenesis imperfecta (OI) is mutations in one of the two genes (COL1A1 and COL1A2) encoding collagen I. The disease is characterised by varying degrees of fragile bones, retarded growth, bone deformities, tooth abnormalities, blue sclerae, and hearing loss. Treatment with bisphosphonates reduces the incidence of fractures in children with severe OI, while this still remains to be demonstrated in adults. Results from bone marrow transplantation and animal experiments may lead to alternative treatment in severe OI
Original languageDanish
JournalUgeskrift for læger
Volume169
Issue number1
Pages (from-to)30-4
Number of pages5
ISSN0041-5782
Publication statusPublished - 1. Jan 2007

Fingerprint

Osteogenesis Imperfecta
Medical Genetics
Sclera
Bone Marrow Transplantation
Mutation
Incidence

Keywords

  • Adult
  • Bone Density Conservation Agents
  • Child
  • Collagen Type I
  • Diphosphonates
  • Genotype
  • Humans
  • Osteogenesis Imperfecta
  • Phenotype

Cite this

Brixen, K., Illum, N., Hansen, B., Lund, A. M., & Mosekilde, L. (2007). Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling. Ugeskrift for læger, 169(1), 30-4.
Brixen, Kim ; Illum, Niels ; Hansen, Birgitte ; Lund, Allan Meldgaard ; Mosekilde, Leif. / Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling. In: Ugeskrift for læger. 2007 ; Vol. 169, No. 1. pp. 30-4.
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Brixen, K, Illum, N, Hansen, B, Lund, AM & Mosekilde, L 2007, 'Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling', Ugeskrift for læger, vol. 169, no. 1, pp. 30-4.

Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling. / Brixen, Kim; Illum, Niels; Hansen, Birgitte; Lund, Allan Meldgaard; Mosekilde, Leif.

In: Ugeskrift for læger, Vol. 169, No. 1, 01.01.2007, p. 30-4.

Research output: Contribution to journalReviewResearch

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AU - Hansen, Birgitte

AU - Lund, Allan Meldgaard

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KW - Phenotype

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Brixen K, Illum N, Hansen B, Lund AM, Mosekilde L. Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling. Ugeskrift for læger. 2007 Jan 1;169(1):30-4.