与使用地诺单抗治疗高磷血症家族性肿瘤性钙化症/骨质疏松症-高磷血症综合征相关的新型基因突变：病例报告。

IF 1.2 Q4 RHEUMATOLOGY

Reumatismo Pub Date : 2024-06-24 DOI:10.4081/reumatismo.2024.1687

G Fabbriciani, A Colombini, C Messina, G Adami

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引用次数: 0

摘要

本病例报告描述了一种新型 N-乙酰半乳糖氨基转移酶 3 基因同源突变（c.782 G>A；p.R261Q）与高磷血症家族性肿瘤性钙化症/骨质疏松症-高磷血症综合征相关联。患者有肘部、骨盆和下肢疼痛，髋部和肩胛骨部位有硬块。观察到无机磷（Pi）和 C 反应蛋白水平升高。在使用常规药物治疗后，我们对地诺单抗进行了检测，结果表明地诺单抗能降低无机磷水平，但不能使其恢复正常。

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Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.

In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.

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来源期刊

Reumatismo RHEUMATOLOGY-

CiteScore

2.10

自引率

7.10%

发文量

审稿时长

10 weeks

期刊介绍： Reumatismo is the official Journal of the Italian Society of Rheumatology (SIR). It publishes Abstracts and Proceedings of Italian Congresses and original papers concerning rheumatology. Reumatismo is published quarterly and is sent free of charge to the Members of the SIR who regularly pay the annual fee. Those who are not Members of the SIR as well as Corporations and Institutions may also subscribe to the Journal.