[Oesteogenesis imperfecta--genetics, diagnosis and medical treatment].
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.
Brixen
Kim T
KT
Odense Universitetshospital, Endokrinologisk Afdeling M, Odense C. kim.brixen@ouh.fyns-amt.dk
Illum
Niels O
NO
Hansen
Birgitte
B
Lund
Allan Meldgaard
AM
Mosekilde
Leif
L
D000328:Adult; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002648:Child; D024042:Collagen Type I / Q000235:genetics; D004164:Diphosphonates / Q000627:therapeutic use; D005838:Genotype; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D010641:Phenotype
D050071:Bone Density Conservation Agents; D024042:Collagen Type I; D004164:Diphosphonates