Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
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DOI：
10.1155/2014/670842
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发表时间：
2014
影响因子：
--
通讯作者：
Abdelmagid SM
中科院分区：
文献类型：
--
作者：
Faruqi T;Dhawan N;Bahl J;Gupta V;Vohra S;Tu K;Abdelmagid SM
根据美国国家罕见病组织（NORD）的数据，一种罕见病折磨着不到20万人。超过6000种罕见疾病影响了大约十分之一的美国人。罕见的遗传性骨骼疾病仍然是美国患者致残的主要原因。由于缺乏对潜在机制的了解，这些罕见的骨疾病也代表了临床医生的治疗挑战。本系统综述对以下罕见遗传性骨病的治疗方向进行了文献综述：纤维结构不良、Gorham-Stout综合征、进行性骨化纤维结构不良、骨质疏松症、多发性遗传性外生性增生、成骨不全症、颅干骺端发育不良、软骨发育不全和磷酸酶低下。Gorham-Stout病、骨质疏松症和多发性遗传性外生骨瘤的发病机制尚未完全阐明。ACVR1/ALK2通路抑制剂可能作为FOP的治疗干预措施。双膦酸盐和IL-6抑制剂的使用已被探索用于治疗纤维发育不良，但需要更多的研究。细胞疗法、双膦酸盐复合疗法和人类生长激素可以避免成骨不全的病理，但需要进一步的研究。目前还没有有效的治疗这些骨骼疾病的方法；然而，在治疗方式方面取得了重大进展，这将限制患者的痛苦并治疗他们的骨骼残疾。
A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.
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DOI：
10.1016/j.berh.2007.11.004
发表时间：
2008-03-01
影响因子：
5.2
作者：
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影响因子：
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