评价骨质疏松患者的骨质量和骨微结构改变:用HR-pQCT评估。

IF 5.1 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Ruotong Zhou, Qianqian Pang, Xuan Qi, Yushuo Wu, Yue Chi, Lijia Cui, Ruizhi Jiajue, Xiang Li, Mei Li, Yan Jiang, Ou Wang, Xiaoping Xing, Li Zhang, Weibo Xia
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引用次数: 0

摘要

背景:骨质疏松症(OPT)是一种罕见的骨骼疾病,以高骨量为特征,有两种主要的遗传模式:常染色体显性骨质疏松症(ADO)和常染色体隐性骨质疏松症(ARO)。然而,对OPT患者骨微结构的全面描述是有限的。目的:本研究的目的是全面研究OPT患者的骨微结构,探讨与年龄相关的骨改变,并描述不同基因型之间的骨骼异质性。方法:回顾性分析9例OPT患者,包括7例伴有CLCN7突变的ADO患者、1例伴有CAII突变的ARO患者和1例伴有TCIRG1突变的ARO患者。进行临床及生化检查。采用高分辨率外周定量计算机断层扫描(HR-pQCT)观察骨微观结构。结果:与年龄和性别匹配的健康对照组相比,OPT患者的总体积骨密度更高。此外,小梁骨密度更大,小梁体积骨密度更大,小梁数量增加,小梁分离减少。然而,OPT患者的皮质骨较弱,其特征是皮质厚度和孔隙度增加。在代表性的重建HR-pQCT图像上,OPT患者表现出特征性模式,包括骨岛和不均匀的致密结构。观察到不同基因型的骨骼异质性,一名CAII突变的OPT患者皮质骨较松,而一名TCIRG1突变的OPT患者皮质骨较厚。结论:与健康对照组相比,OPT患者骨小梁密度更大,皮质骨较厚但疏松,骨形态独特,骨骼异质性明显。这些结果为OPT患者的骨改变提供了新的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT.

Context: Osteopetrosis (OPT) is a rare skeletal disease characterized by high bone mass that has 2 major inheritance patterns: autosomal dominant osteopetrosis and autosomal recessive osteopetrosis (ARO). However, comprehensive descriptions of bone microarchitecture in OPT patients are limited.

Objectives: The aim of this study was to comprehensively investigate the bone microarchitecture of OPT patients, explore age-related bone alterations, and describe the skeletal heterogeneity among different genotypes.

Methods: Nine OPT patients, including 7 with autosomal dominant osteopetrosis and CLCN7 mutations, 1 ARO patient with CAII mutation, and 1 ARO patient with TCIRG1 mutation, were retrospectively enrolled in this study. Clinical and biochemical examinations were performed. Bone microstructure was investigated by high-resolution peripheral quantitative computed tomography.

Results: Compared with age- and sex-matched healthy controls, OPT patients had greater total volumetric bone mineral density. In addition, trabecular bone was denser, with greater trabecular volumetric bone mineral density, increased trabecular number, and decreased trabecular separation. However, the cortical bone in OPT patients was weaker, characterized by increased cortical thickness and porosity. OPT patients exhibited characteristic patterns, including bone islets and uneven dense structures, on the representative reconstruction high-resolution peripheral quantitative computed tomography images. Skeletal heterogeneity across different genotypes was observed, with looser cortical bone in 1 OPT patient with CAII mutation and thicker cortical bone in 1 OPT patient with TCIRG1 mutation.

Conclusion: Compared with healthy controls, OPT patients presented with denser trabecular bone, thicker but looser cortical bone, unique bone patterns, and skeletal heterogeneity. These results provide new insights into bone alterations in OPT patients.

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来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
期刊介绍: The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
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