Oakley Ingrid, Reece Lauren Pilleteri
University of Alabama, Birmingham School of Nurse Anesthesia, Birmingham, Alabama, USA.
AANA J. 2010 Feb;78(1):47-53.
Osteogenesis imperfecta is an inherited disorder of the connective tissue stemming from gross abnormalities in collagen formation and structure. Affected patients fall into 4 classifications each displaying the similar properties of easily fractured bones, hypermobile joints, blue or gray sclera, skeletal deformities, and fragile skin. More severe forms of the disease may manifest platelet dysfunction, cardiac anomalies, hypermetabolic syndromes, respiratory compromise, and/or basilar invagination. Treatment of osteogenesis imperfecta is mainly supportive, consisting of prompt surgical treatment of fractures to prevent deformity and maintaining mobility to lessen the chance of pulmonary or cardiovascular complications. These treatment modalities make anesthesia of paramount importance. Current literature exposes many potential anesthetic complications associated with osteogenesis imperfecta. The research shows that implications range from simply positioning the patient on the operating room table to management of rare occurrences such as malignant hyperthermia and basilar invagination. Commonly encountered complications include a difficult airway, intraoperative bleeding due to platelet dysfunction, respiratory compromise due to skeletal deformity, and congenital cardiac anomalies. Proper preparation and preoperative assessment is important, as is the choice of anesthetic technique. Correct identification of risk factors and optimization of health before surgery should lead to an uneventful anesthetic course.
成骨不全症是一种结缔组织遗传性疾病，源于胶原蛋白形成和结构的严重异常。受影响的患者分为4类，每类都表现出易骨折、关节活动过度、巩膜呈蓝色或灰色、骨骼畸形和皮肤脆弱等相似特征。该疾病更严重的形式可能表现为血小板功能障碍、心脏异常、高代谢综合征、呼吸功能不全和/或基底凹陷。成骨不全症的治疗主要是支持性的，包括对骨折进行及时的手术治疗以防止畸形，并保持活动能力以减少肺部或心血管并发症的发生几率。这些治疗方式使得麻醉至关重要。当前文献揭示了许多与成骨不全症相关的潜在麻醉并发症。研究表明，影响范围从简单地将患者安置在手术台上到处理诸如恶性高热和基底凹陷等罕见情况。常见的并发症包括气道困难、因血小板功能障碍导致的术中出血、因骨骼畸形导致的呼吸功能不全以及先天性心脏异常。适当的准备和术前评估很重要，麻醉技术的选择也同样重要。正确识别风险因素并在手术前优化健康状况应能使麻醉过程顺利。
