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一名特纳综合征患者接受了七次经皮椎体成形术:病例报告和文献复习。

A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review.

机构信息

Department of Orthopaedics, The First Affiliated Hospital of Zhengzhou University, No. 1 Jianshe East Road, Zhengzhou, China.

出版信息

Eur J Med Res. 2021 Dec 7;26(1):139. doi: 10.1186/s40001-021-00617-4.

Abstract

BACKGROUND

Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55-64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients.

CASE PRESENTATION

Here, we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). G-banded karyotype analysis was performed and the result was 45,X[43]/47,XXX[17], indicating that the patient was a mosaicism of TS karyotype and Trisomy X syndrome karyotype. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc. CONCLUSIONS: Early diagnosis and hormone replacement treatment are essential for TS patients to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

摘要

背景

特纳综合征(TS)的特征是完全或部分缺少一条 X 染色体,是一种极其罕见的疾病,影响大约每 2500 名活产女婴中的 1 名。虽然患有 TS 的女性骨质疏松症的患病率估计约为 55-64%,且她们比正常人更频繁地骨折,但由于患者数量极少,很少有关于患有 TS 骨质疏松症的患者的报告。

病例介绍

在此,我们报告了一例罕见的 TS 合并骨质疏松症患者,该患者因多处椎体压缩性骨折(VCF)已接受了 7 次经皮椎体成形术(PVP)。进行了 G 带核型分析,结果为 45,X[43]/47,XXX[17],表明该患者为 TS 核型和 X 三体综合征核型的嵌合体。TS 是导致该患者雌激素水平低的根本原因。衰老、雌激素缺乏和肠道菌群失调的相互作用导致其严重的骨质疏松症和多节段 VCF。本报告的目的是通过回顾 TS 的临床表现、雌激素缺乏对骨质疏松症的影响等,为 TS 合并骨质疏松症患者的管理提供建议。

结论

早期诊断和激素替代治疗对 TS 患者预防骨质疏松症和降低骨折风险至关重要。这是一例描述 TS 患者严重骨质疏松症和 VCF 的罕见病例报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57e3/8650291/de0e535d887b/40001_2021_617_Fig1_HTML.jpg

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