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首页> 外文期刊>Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research >Bone Mineral Density and Microarchitecture in Patients With Autosomal Dominant Osteopetrosis: A Report of Two Cases
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Bone Mineral Density and Microarchitecture in Patients With Autosomal Dominant Osteopetrosis: A Report of Two Cases

机译：常染色体显性骨质疏松症患者的骨矿物质密度和微结构：两例报告

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The aim of this case study is to describe changes in areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) scan, as well as volumetric bone density and microarchitecture by high-resolution peripheral quantitative computed tomography (HR-pQCT) in two patients with autosomal dominant osteopetrosis (ADO) and compare with 20 healthy subjects. We describe a 44-year-old male patient with six low-impact fractures since he was age 16 years, and a 32-year-old female patient with four low-impact fractures on her past history. Radiographic changes were typical of ADO. Consistent with the much higher aBMD, total volumetric BMD (average bone density of the whole bone, including trabecular and cortical compartments) at distal radius and tibia (HR-pQCT) was more than twice the mean values found in healthy subjects in both patients. Trabecular number and thickness were higher, leading to an evident increase in trabecular bone volume to tissue volume. Also, an enormous increase in cortical thickness was found. Most important, a great heterogeneity in bone microstructure of the affected patients was evident on HR-pQCT images: islets of very dense bone were interposed with areas with apparent normal density. The increase in aBMD, volumetric BMD, and most indices of trabecular and cortical bone, associated with the great heterogeneity on bone tridimensional microarchitecture, reflect the accumulation of old and fragile bone randomly distributed along the skeleton. These alterations in bone microstructure probably compromise bone quality, which might justify the high prevalence of low-impact fractures in patients with ADO, despite abnormally elevated BMD. (c) 2015 American Society for Bone and Mineral Research.
机译：本案例研究的目的是通过双能X射线吸收法（DXA）扫描描述面骨矿物质密度（aBMD）的变化，以及通过高分辨率外围定量计算机断层扫描（HR- pQCT）在两名常染色体显性骨质疏松症（ADO）患者中进行比较，并与20名健康受试者进行比较。我们描述了一位自16岁以来患有6例低影响骨折的男性患者，以及一名32岁女性4例低影响骨折的女性患者的既往史。放射线学改变是ADO的典型特征。与更高的aBMD相一致，distal骨和胫骨远端的总体积BMD（包括骨骼小梁和皮质小室在内的整个骨骼的平均骨密度）（HR-pQCT）均是健康受试者的均值的两倍以上。骨小梁的数量和厚度更高，导致骨小梁的体积明显增加。另外，发现皮质厚度大大增加。最重要的是，在HR-pQCT图像上明显显示出受影响患者的骨微结构有很大的异质性：非常密集的骨胰岛插入了具有明显正常密度的区域。 aBMD，体积BMD以及小梁和皮质骨大多数指数的增加与骨骼三维微结构的巨大异质性有关，反映了沿骨骼随机分布的旧骨和脆弱骨的积累。骨微结构的这些变化可能会损害骨质，这可能证明ADO患者低冲击力骨折的高患病率是合理的，尽管BMD异常升高。 （c）2015年美国骨与矿物质研究学会。

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