Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

作者：Lindert Uschi; Kraenzlin Marius; Campos Xavier Ana Belinda; Baumgartner Matthias R; Bonafe Luisa; Giunta Cecilia; Rohrbach Marianne

来源：Orphanet Journal of Rare Diseases, 2015, 10(1): 104.

DOI：10.1186/s13023-015-0315-9

• Osteogenesis imperfecta
• Biomarker
• Urinary pyridinoline cross-links
• LP/HP ratio
• Collagen
• Mutations
• Non-accidental injury

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.

• 出版日期2015-8-27