Osteogenesis imperfecta - A clinical update
Osteogenesis imperfecta - A clinical update
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DOI：
10.1016/j.metabol.2017.06.001
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发表时间：
2018-03-01
影响因子：
9.8
通讯作者：
Dede, Anastasia D.
中科院分区：
文献类型：
--
作者：
Tournis, Symeon;Dede, Anastasia D.
成骨不全(DI)是最常见的遗传性骨脆性疾病，包括一组异质性的遗传疾病，最常见的原因是与1型胶原相关的缺陷。85%-90%的病例是常染色体显性遗传，由COL1A1和COL1A2基因突变引起，导致1型胶原的数量或质量缺陷。在过去的十年里，与1型胶原蛋白的正常加工有关的其他几种蛋白质的缺陷已经被描述。遗传学的最新进展要求重新考虑OI的分类，然而，最新的分类与Sillence的经典临床分类一致。这种疾病的特点是骨骼脆弱，但其他组织也会受到影响。静脉注射双磷酸盐(BPS)是最广泛使用的干预措施，对成长中的儿童骨折后的面骨密度(BMD)和椎体重塑有显著的有利作用。BPS对长骨骨折的发生率影响不大，其对成人OI患者的影响仅与骨密度有关，而有报道称粗隆下骨折类似于非典型的股骨骨折。其他显示出有希望的治疗结果的治疗方法包括地诺舒单抗、特瑞帕泰、硬化素抑制、抗吸收和合成代谢药物的联合治疗以及转化生长因子-β抑制。基因打靶方法正在评估中。需要更多的研究来描述这种异质性疾病的最佳治疗方法。(C)2017 Elsevier Inc.保留所有权利。
Osteogenesis imperfecta ((DI) is the most common inherited form of bone fragility and includes a heterogenous group of genetic disorders which most commonly result from defects associated with type 1 collagen. 85%-90% of cases are inherited in an autosomal dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in type 1 collagen. In the last decade, defects in several other proteins involved in the normal processing of type 1 collagen have been described. Recent advances in genetics have called for reconsideration of the classification of OI, however, most recent classifications align with the classic clinical classification by Sillence. The hallmark of the disease is bone fragility but other tissues are also affected. Intravenous bisphosphonates (BPs) are the most widely used intervention, having significant favorable effects regarding areal bone mineral density (BMD) and vertebral reshaping following fractures in growing children. BPs have a modest effect in long bone fracture incidence, their effects in adults with OI concerns only BMD, while there are reports of subtrochanteric fractures resembling atypical femoral fractures. Other therapies showing promising results include denosumab, teriparatide, sclerostin inhibition, combination therapy with antiresorptive and anabolic drugs and TGF-beta inhibition. Gene targeting approaches are under evaluation. More research is needed to delineate the best therapeutic approach in this heterogeneous disease. (C) 2017 Elsevier Inc. All rights reserved.