Cheung Moira S, Glorieux Francis H
Genetics Unit, Shriners Hospital for Children and McGill University, Montréal, QC, Canada.
Rev Endocr Metab Disord. 2008 Jun;9(2):153-60. doi: 10.1007/s11154-008-9074-4. Epub 2008 Apr 11.
Osteogenesis Imperfecta (OI) is a rare heritable condition characterized by bone fragility and reduced bone mass. Traditionally OI was classified into OI types I to IV and thought to be only due to a defect in the collagen gene, however through the discovery of the new types of OI-V to VII, breakthroughs have been made in understanding the pathophysiology of autosomal recessive OI and new genetic mutations, such as in CRTAP and P3H1 genes. OI can present at any age and be difficult to diagnose because of the wide phenotypic variation. Awareness of the new forms of OI, the differential diagnosis and the limitations of diagnostic tools, all help to correctly diagnose and manage a patient with OI. Cyclical intravenous pamidronate is now the standard of care for moderately to severely affected children with OI, given in combination with good orthopedic, physiotherapy and rehabilitation programs. The benefits and short term safety of cyclic bisphosphonates have been amply reported in the literature; however their long term effects are still under investigation. Newer more potent forms of bisphosphonates such as zoledronic acid have undergone and are still being subject to international multicentric drug trials and are beginning to replace pamidronate in some centers.
成骨不全症（OI）是一种罕见的遗传性疾病，其特征为骨骼脆弱和骨量减少。传统上，OI被分为I至IV型，并且认为仅由胶原蛋白基因缺陷引起，然而，通过发现新型的OI-V至VII型，在常染色体隐性OI的病理生理学以及新的基因突变（如CRTAP和P3H1基因中的突变）的理解方面取得了突破。OI可在任何年龄出现，并且由于广泛的表型变异而难以诊断。对新形式的OI、鉴别诊断以及诊断工具的局限性的认识，都有助于正确诊断和管理OI患者。对于中度至重度受影响的OI儿童，周期性静脉注射帕米膦酸盐现在是护理标准，同时结合良好的矫形、物理治疗和康复计划。文献中已充分报道了周期性双膦酸盐的益处和短期安全性；然而，它们的长期影响仍在研究中。新型更强效的双膦酸盐如唑来膦酸已经进行并且仍在进行国际多中心药物试验，并且在一些中心开始取代帕米膦酸盐。
