成骨不全症的最新进展。
Recent progress in osteogenesis imperfecta.
机构信息
Department of Orthopaedic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
出版信息
Orthop Surg. 2011 May;3(2):127-30. doi: 10.1111/j.1757-7861.2011.00128.x.
Abstract
Osteogenesis imperfecta (OI), a rare clinical disease with abnormal type I collagen, is inherited or caused by mutation. A classification of OI into four types was proposed in 1979 and has been used up until four new types were added recently. A tough clinical challenge, OI causes abnormal blood coagulation and cardiovascular structure, airways obstruction, and delayed wound healing. The authors of the current article have reviewed recent progress in OI worldwide, including the mechanisms, classification, detection, clinical difficulties, and treatment.
摘要
成骨不全症（OI）是一种罕见的临床疾病，其特征为Ⅰ型胶原异常，该病可遗传或由突变引起。1979 年提出了将 OI 分为四型的分类方法，直到最近才增加了四种新类型。OI 是一个棘手的临床挑战，可导致异常的凝血和心血管结构、气道阻塞以及伤口愈合延迟。本文作者综述了全球范围内 OI 的最新进展，包括发病机制、分类、检测、临床难点和治疗方法。
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