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成骨不全的治疗和预后

Authors
John F Beary, III, MD
Arkadi A Chines, MD
Section Editor
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Elizabeth TePas, MD, MS
Translators
蔡思逸, 主治医师

引言

成骨不全(osteogenesis imperfect, OI)是一种表型不一的遗传性结缔组织病，常被称为“脆骨病”。严重受累患者在受到轻微创伤或未受创伤时即可发生多处骨折，OI属于最严重类型的婴儿死于围生期。轻度OI可能仅表现为早发型骨质疏松或重度绝经后骨矿物质丢失。

OI的治疗目标为降低骨折率，避免长骨畸形和脊柱侧凸，最大程度降低慢性疼痛，以及最大程度增加活动度和其他功能能力[1-3]。做出诊断时，OI患者应由具有OI治疗专业知识的遗传学专家和矫形外科专家(如有临床指征)进行评估[4]。治疗需要多学科团队协作，包括理疗、外科干预、药物治疗，以及某些情况下的试验性治疗[5-7]。OI患者需要初级保健医护人员提供额外的健康监督，并对潜在并发症进行监测。

OI的治疗和预后将总结在此。OI的发病机制、临床特征、诊断和鉴别诊断将单独讨论。 (参见“成骨不全的临床特征与诊断”)

双膦酸盐治疗

在大部分类型的OI患者中(除了存在骨矿化缺陷的Ⅵ型(表 1))，双膦酸盐(bisphosphonate, BP)都是预防骨折的主要药物，但尚无BP获批专门用于OI儿童或成人。对于临床益处可能超过潜在远期风险的各型(Ⅵ型除外)OI患者 (即有长骨畸形、椎体压缩性骨折，以及每年至少骨折3次的患者)，我们都建议静脉给予帕米膦酸二钠 (参见“成骨不全的临床特征与诊断”，关于‘病理学’一节)

BP是焦磷酸盐的稳定类似物，是骨质吸收和骨转换的强效抑制剂。其广泛用于成人骨质疏松的治疗，多项临床试验显示BP可为绝经后骨质疏松女性、骨质疏松男性和糖皮质激素性骨质疏松患者降低骨折风险。

                        

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Literature review current through: 2017-06 . | This topic last updated: 2016-11-30.
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