Urinary pyridinoline cross-links as biomarkersof osteogenesis imperfecta

Orphanet Journal of Rare Diseases

Marianne Rohrbach²  Cecilia Giunta²  Luisa Bonafé¹  Matthias R. Baumgartner²  Ana Belinda Campos-Xavier¹  Marius Kraenzlin³  Uschi Lindert² 

[1] Center for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland;Division of Metabolism, Connective Tissue Unit, University Children’s Hospital Zurich and Children’s Research Centre, Zurich, Switzerland;Clinic for Endocrinology, Diabetology and Metabolism, University Hospital, Basel, Switzerland

关键词: Non-accidental injury;    Mutations;    Collagen;    LP/HP ratio;    Urinary pyridinoline cross-links;    Biomarker;    Osteogenesis imperfecta;   

Others  :  1224100
DOI  :  10.1186/s13023-015-0315-9

 received in 2015-06-18, accepted in 2015-07-30,  发布年份 2015

【 摘 要 】

Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consuming and cost-intensive biochemical and molecular genetics analyses. Therefore, it is desirable to identify and establish new diagnostic markers for OI that are reliable, cost-effective and easily accessible. In our study we have identified the ratio of the urinary pyridinoline cross-links lysyl-pyridinoline and hydroxylysyl-pyridinoline as a promising, time- and cost-effective biomarker for osteogenesis imperfecta, that could be used furthermore to investigate cases of suspected non-accidental injury in infants.

【 授权许可】

   
2015 Lindert et al.

【 图 表 】

Fig. 1.

【 参考文献 】

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