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β和α杂合子地中海贫血患者的骨微结构恶化与脆性骨折:一例报告

Bone microarchitecture deteriorations and a fragility fracture in a patient with beta and alpha heterozygous thalassemia: a case report.

作者信息

Feichtinger Xaver, Kocijan Roland, Resch Heinrich, Muschitz Christian

机构信息

Medical Department II, St. Vincent Hospital Vienna, Academic Teaching Hospital of the Medical University Vienna, Stumpergasse 13, 1060, Vienna, Austria.

出版信息

Wien Klin Wochenschr. 2017 Mar;129(5-6):212-216. doi: 10.1007/s00508-016-1032-7. Epub 2016 Jun 30.

DOI:10.1007/s00508-016-1032-7
PMID:27363996
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5346126/
Abstract

To date there are few studies that have investigated bone mineral density (BMD) and markers of bone metabolism in patients with thalassemia minor form. None of the previous trials presented bone structure analysis in the patient populations. We present the case of a 24-year-old Turkish woman with heterozygous beta and alpha thalassemia who sustained a low-trauma fracture of the inferior pubic ramus. Despite normal markers of bone metabolism, the dual X‑ray absorptiometry (DXA) showed decreased areal bone mineral density. Furthermore, severely reduced bone structure parameters and reduced volumetric bone mineral density was assessed by high-resolution peripheral quantitative computed tomography (HR-pQCT). Due to these diagnostic findings at time of peak bone mass, an osteoanabolic therapy with teriparatide for 24 months was initiated. The findings concerning BMD and bone structure in this patient can be seen as caused by the beta and alpha thalassemia.

摘要

迄今为止,很少有研究调查轻型地中海贫血患者的骨矿物质密度(BMD)和骨代谢标志物。之前的试验均未对患者群体进行骨结构分析。我们报告了一例24岁的土耳其女性病例,该患者为杂合子β和α地中海贫血,耻骨下支发生了低创伤性骨折。尽管骨代谢标志物正常,但双能X线吸收法(DXA)显示骨面积密度降低。此外,通过高分辨率外周定量计算机断层扫描(HR-pQCT)评估发现骨结构参数严重降低,骨体积密度也降低。由于在骨量峰值时出现了这些诊断结果,因此开始使用特立帕肽进行骨合成代谢治疗24个月。该患者的BMD和骨结构的研究结果可视为由β和α地中海贫血引起。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf39/5346126/42791f659352/508_2016_1032_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf39/5346126/0046575978ca/508_2016_1032_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf39/5346126/42791f659352/508_2016_1032_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf39/5346126/0046575978ca/508_2016_1032_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf39/5346126/42791f659352/508_2016_1032_Fig2_HTML.jpg

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