Palomo Telma, Vilaça Tatiane, Lazaretti-Castro Marise
aBone and Mineral Unit, Division of Endocrinology, Universidade Federal de São Paulo, Brazil bAcademic Unit of Bone Metabolism, University of Sheffield, Sheffield, United Kingdom.
Curr Opin Endocrinol Diabetes Obes. 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367.
Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults.
Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission. Intravenous bisphosphonate infusions are the most widely used medical treatment. This has a marked effect on vertebra in growing children and can lead to vertebral reshaping after compression fractures. However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation.
Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.
本文总结成骨不全的诊断方法，讨论新发现的与成骨不全相关的基因，并回顾儿童和成骨不全患者的疾病管理。
编码I型胶原蛋白的两个基因COL1A1和COL1A2发生突变是成骨不全最常见的病因。在过去10年中，至少17个其他基因的缺陷已被确定与成骨不全表型有关，呈显性或隐性遗传。静脉输注双膦酸盐是应用最广泛的药物治疗方法。这对正在生长的儿童的椎体有显著影响，可导致压缩性骨折后椎体重塑。然而，双膦酸盐对预防长骨骨折的效果较差。目前，新的治疗方法正在研究中。
尽管成骨不全的诊断和治疗取得了进展，但仍需更多研究。双膦酸盐治疗可降低长骨骨折发生率，但此类骨折仍很常见。新型抗吸收和促合成药物正在研究中，但在用于临床实践之前，需要更好地确定这些药物的疗效和安全性，尤其是在儿童中的情况。
