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成骨不全症:遗传学和治疗的进展。

Osteogenesis imperfecta: advancements in genetics and treatment.

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine.

Texas Children's Hospital, Houston, Texas, USA.

出版信息

Curr Opin Pediatr. 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813.

Abstract

PURPOSE OF REVIEW

The purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for this disorder.

RECENT FINDINGS

The introduction of next-generation sequencing technology has led to better understanding of the genetic cause of osteogenesis imperfecta and enabled cost-effective and timely diagnosis via expanded gene panels and exome or genome sequencing. Clinically, despite genetic heterogeneity, different forms of osteogenesis imperfecta share similar features that include connective tissue and systemic manifestations in addition to bone fragility. Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to include the maximization of growth and mobility, and the management of extraskeletal complications. The standard of care in pediatric patients is bisphosphonates therapy. Ongoing preclinical studies in osteogenesis imperfecta mouse models and clinical studies in individuals with osteogenesis imperfecta have been instrumental in the development of new and targeted therapeutic approaches, such as sclerostin inhibition and transforming growth factor-β inhibition.

SUMMARY

Osteogenesis imperfecta is a skeletal dysplasia characterized by bone fragility and extraskeletal manifestations. Better understanding of the mechanisms of osteogenesis imperfecta will enable the development of much needed targeted therapies to improve the outcome in affected individuals.

摘要

目的综述

本文旨在概述成骨不全症的分子机制和自然史的现有认识,并描述这种疾病新疗法的进展。

最近的发现

新一代测序技术的引入使人们对成骨不全症的遗传原因有了更好的理解,并通过扩展基因面板、外显子组或基因组测序实现了具有成本效益且及时的诊断。临床上,尽管存在遗传异质性,但不同形式的成骨不全症具有相似的特征,除了骨骼脆弱外,还包括结缔组织和全身表现。因此,成骨不全症的治疗目标不仅在于降低骨折风险,还包括最大限度地促进生长和活动能力,以及管理骨骼外并发症。儿童患者的标准治疗方法是双膦酸盐治疗。成骨不全症小鼠模型的临床前研究和成骨不全症患者的临床研究在开发新的靶向治疗方法方面发挥了重要作用,如抑制硬骨素和转化生长因子-β抑制。

总结

成骨不全症是一种骨骼发育不良,其特征为骨骼脆弱和骨骼外表现。更好地了解成骨不全症的发病机制将有助于开发急需的靶向治疗方法,以改善受影响个体的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22d2/7017716/f39a6f58df0a/nihms-1549377-f0001.jpg

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