Osteogenesis Imperfecta: Update on presentation and management
Osteogenesis Imperfecta: Update on presentation and management
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DOI：
10.1007/s11154-008-9074-4
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发表时间：
2008-06-01
影响因子：
8.2
通讯作者：
Glorieux, Francis H.
中科院分区：
文献类型：
--
作者：
Cheung, Moira S.;Glorieux, Francis H.
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，成骨不全症被分为I型至IV型，并且被认为仅仅是由于胶原蛋白基因缺陷所致，然而随着V型至VII型新型成骨不全症的发现，在理解常染色体隐性成骨不全症的病理生理学以及诸如CRTAP和P3H1基因等新的基因突变方面取得了突破。成骨不全症可在任何年龄发病，并且由于表型差异大而难以诊断。对成骨不全症新类型、鉴别诊断以及诊断工具局限性的认识，都有助于正确诊断和治疗成骨不全症患者。周期性静脉注射帕米膦酸盐现在是中度至重度成骨不全症患儿的标准治疗方法，同时结合良好的骨科、物理治疗和康复方案。周期性双膦酸盐的益处和短期安全性在文献中已有大量报道；然而其长期影响仍在研究中。更新、更有效的双膦酸盐形式，如唑来膦酸，已经经历并且仍在接受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。
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.