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成纤维细胞生长因子-23介导肿瘤诱导的低磷性骨软化症:一名反复骨折年轻女性的罕见病例及文献复习

FGF-23 transmitted tumor - induced hypophosphatemic osteomalacia: A rare case of a young woman with recurrent fractures and review of the literature.

作者信息

Frank Florian A, Gerber Lukas, Cornelius Alexander, Baumhoer Daniel, Krieg Andreas H

机构信息

Department of Orthopaedic and Trauma Surgery, Kantonsspital Aarau, Tellstrasse 25, Aarau 5001, Switzerland.

Department of Nephrology, Dialysis and Transplantation, Kantonsspital Aarau, Tellstrasse 25, Aarau 5001, Switzerland.

出版信息

J Bone Oncol. 2022 Jan 29;33:100413. doi: 10.1016/j.jbo.2022.100413. eCollection 2022 Apr.

Abstract

We present a case of tumor-induced osteomalacia (TIO) in a young woman of 22 years. The fibroblast growth factor 23 transmitting tumor in her left foot remained undetected for several years. She suffered several fractures including insufficiency fractures of both femoral necks requiring bilateral proximal femoral nailing. After phosphaturia was diagnosed any known genetic etiology was excluded. Even advanced imaging modalities were unable to detect the clinically silent tumor until an Ga-DOTA-TOC-PET/CT-scan revealed a mass with paraneoplastic activity in the left foot. Complete resection of the tumor proved to cure her condition after 9 years of uncertainty and suffering. Serum phosphate levels returned to normal within days. After presentation of the case report, the current literature on published cases of TIO between 1956 and 2021 is summarized to emphasize the importance of an accurate and early diagnosis. Our case report aims to illustrate that a long latency period of diagnosis may be avoided utilizing the latest imaging techniques to spare affected patients from long treatment of symptoms instead of finding the underlying cause.

摘要

我们报告一例22岁年轻女性的肿瘤诱导性骨软化症(TIO)病例。她左足中分泌成纤维细胞生长因子23的肿瘤多年来一直未被发现。她发生了多次骨折,包括双侧股骨颈的骨质疏松性骨折,需要进行双侧股骨近端髓内钉固定术。在诊断出磷酸盐尿症后,排除了所有已知的遗传病因。即使采用先进的影像学检查方法也未能检测到临床上无症状的肿瘤,直到一次镓-多胺基多羧基-奥曲肽正电子发射断层扫描/计算机断层扫描(Ga-DOTA-TOC-PET/CT)显示左足有一个具有副肿瘤活性的肿块。在经历了9年的不确定性和痛苦之后,肿瘤的完全切除证实治愈了她的疾病。血清磷酸盐水平在数天内恢复正常。在报告该病例后,总结了1956年至2021年间已发表的TIO病例的相关文献,以强调准确早期诊断的重要性。我们的病例报告旨在说明,利用最新的成像技术可以避免较长的诊断潜伏期,使受影响的患者不必长期对症治疗,而是找到潜在病因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0cdf/8829074/0b10294f921e/gr1.jpg

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