Tosi Laura L, Warman Matthew L
Division of Orthopaedics and Sports Medicine, Children's National Health System, 111 Michigan Avenue NW, Washington, DC 20010, USA.
Orthopaedic Research Laboratories, Boston Children's Hospital, 320 Longwood Avenue, Room EN260.1, Boston, MA 02115, USA.
Bone. 2015 Jul;76:67-75. doi: 10.1016/j.bone.2015.03.016. Epub 2015 Mar 27.
Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's understanding of bone anabolism and catabolism and directed the search for new therapies benefiting patients with rare conditions as well as patients with common skeletal disorders.
罕见骨病占所有出生缺陷的5%，可在患者的一生中导致严重发病。在阐明这些疾病的病理生理机制方面正在取得重大进展。本文总结了一次罕见骨骼疾病研讨会的重点内容，该研讨会旨在探讨罕见病研究如何影响了该领域对骨合成代谢和分解代谢的理解，并指导寻找使罕见病患者以及常见骨骼疾病患者受益的新疗法。
