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特立帕肽、地诺单抗和罗莫单抗在患有致病性变异的产后单基因骨质疏松症中的应用。

Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a Pathogenic Variation.

作者信息

Cavalcanti Matos Thiago, Kistemann Gonçalves Dias Mariana, Franco Andre Silva

机构信息

Division of Rheumatology, Faculdade de Medicina da, Hospital das Clínicas HCFMUSP, Universidade de São Paulo, São Paulo 01246-903, Brazil.

出版信息

JCEM Case Rep. 2025 Mar 26;3(4):luaf053. doi: 10.1210/jcemcr/luaf053. eCollection 2025 Apr.

Abstract

Early-onset osteoporosis (EOOP) is a form of osteoporosis (OP) that affects young people, and its etiologies include subclinical diseases, nutritional deficiencies, medications, or even genetic variants. We present a case of a 28-year-old woman with a history of vertebral and rib fractures immediately post partum. Although negative evaluation for secondary causes of OP, her bone densitometry showed a score of -4.7 in the lumbar spine (LS) and -3.3 both in the total hip (TH) and femoral neck (FN). Classified as very high-risk OP, anabolic treatment with teriparatide was initiated, with the addition of denosumab. At the end of this initial treatment, the patient showed partial improvement in her bone densitometry, leading to further investigation with a genetic panel. A pathogenic variant of the gene (Chr12:48 981 551 AC > A) was identified. Consequently, romosozumab was considered, despite its absence in the official indication for such or similar cases, due to biological plausibility since it inhibits sclerostin, an inhibitor of the WNT pathway. Finally, the patient showed significant improvement in bone densitometry, with a total increase of +42.1% in lumbar spine bone mineral density (BMD) and +16.6% in total hip BMD.

摘要

早发性骨质疏松症(EOOP)是一种影响年轻人的骨质疏松症(OP)形式,其病因包括亚临床疾病、营养缺乏、药物治疗,甚至基因变异。我们报告一例28岁产后即刻出现椎体和肋骨骨折病史的女性病例。尽管对OP的继发原因评估为阴性,但其骨密度测量显示腰椎(LS)评分为-4.7,全髋(TH)和股骨颈(FN)均为-3.3。该患者被归类为极高风险OP,开始使用特立帕肽进行促合成代谢治疗,并加用狄诺塞麦。在初始治疗结束时,患者的骨密度测量显示部分改善,因此进一步进行基因检测。鉴定出该基因的一个致病变异(Chr12:48 981 551 AC > A)。因此,尽管罗莫单抗在官方适应症中未提及此类或类似病例,但考虑到其生物学合理性,即它可抑制WNT通路的抑制剂硬化蛋白,所以使用了罗莫单抗。最后,患者的骨密度测量显示有显著改善,腰椎骨矿物质密度(BMD)总体增加了+42.1%,全髋BMD增加了+16.6%。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cef/11938819/4ef8fb0013fd/luaf053f1.jpg

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