摘要
背景:高骨量(HBM)病是一组临床和遗传异质性的骨疾病的增加骨密度片,由于渐进性骨overgro随着或受损的骨吸收,或两者。一些HBM的病例是继发于其他疾病,如慢性丙型肝炎病毒感染。尽管在基因诊断技术的巨大进步,主要HBM的个体性仍然确诊。 目的:总结不同病因所致HBM患者的临床、影像学及生化特征,为鉴别诊断提供依据。HBM的无菌性。 结果:HBM各亚组均有不同的临床、影像学和生化特征。由于骨骼过度生长,hbm被指定为硬皮病,其原因是loc突变。与Wnt/β-catenin信号通路密切相关的基因。编码与破骨细胞分化和成熟相关的基因突变,或对酸化因子至关重要的基因突变阳离子和骨吸收的破骨细胞可导致骨硬化症。丙型肝炎相关性硬化的特点是骨量广义增加显着升高血清骨特异性碱性磷酸酶。 结论:阐明HBM的病因对了解骨代谢的分子机制具有重要的突破作用,为骨代谢的介入提供了新的途径。骨质疏松症。
关键词: 高骨量,成骨细胞,破骨细胞,硬化,骨硬化,Wnt/β-catenin信号,丙型肝炎相关骨硬化。
Current Drug Targets
Title:A Review of the Clinical, Radiological and Biochemical Characteristics and Genetic Causes of High Bone Mass Disorders
Volume: 19 Issue: 6
关键词: 高骨量,成骨细胞,破骨细胞,硬化,骨硬化,Wnt/β-catenin信号,丙型肝炎相关骨硬化。
摘要: Background: High bone mass (HBM) disorders are a group of clinically and genetically heterogeneous bone diseases characterized by increased bone density on radiographs, due to progressive bone overgrowth or impaired bone resorption, or both. Some HBM cases are secondary to other diseases, such as chronic hepatitis C virus infection. Despite the great advance in gene diagnostic technology, the majority of HBM individuals remain undiagnosed.
Objective: In this review, we will summarize the clinical, radiological and biochemical characteristics of HBM cases due to varying etiologies, since these features are helpful in the differential diagnosis of HBM.
Results: Each subgroup of HBM cases shows distinctive clinical, radiological and biochemical characteristics. HBM, due to bone overgrowth, was designated as sclerosteosis, as a result of mutations located in genes critically involved in the Wnt/beta-catenin signal pathway. Mutations in genes encoding factors relevant to the differentiation and maturation of osteoclasts, or critical for the acidification and resorption of osteoclasts may lead to osteopetrosis. Hepatitis C associated osteosclerosis is characterized by a generalized increase in bone mass and markedly elevated serum levels of bone specific alkaline phosphatase.
Conclusion: The clarification of the etiologies of HBM may have a breakthrough role in understanding the molecular mechanisms involved in bone metabolism and may provide new pathways for the intervention of osteoporosis.
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Cite this article as:
A Review of the Clinical, Radiological and Biochemical Characteristics and Genetic Causes of High Bone Mass Disorders, Current Drug Targets 2018; 19 (6) . https://dx.doi.org/10.2174/1389450119666180122161503
DOI https://dx.doi.org/10.2174/1389450119666180122161503 |
Print ISSN 1389-4501 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-5592 |
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