风湿病科和骨科罕见病原发性肿瘤样钙质沉着症： 白细胞介素-1抑制剂联合手术矫正效用的1例病例研究

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引言：原发性肿瘤样钙质沉着症是一种罕见病。鲜少有文献探讨该病的发生率及临床治疗建议。

临床病例：本报告报道了1例11.5岁男性患儿，其患有原发性肿瘤样钙质沉着症和单侧马蹄足畸形。患者有多发性皮下钙化病灶，无法行走，出现疲乏和高烧，左足马蹄状畸形。已行相关免疫学和遗传学检查，但尚未发现具体突变基因。确诊后给予白细胞介素-1β抑制剂，用药后观察到明显积极
的趋势：患者整体状况明显好转，钙化明显减少，炎症有所缓解。左足畸形的病因是跟腱及腓肠
肌钙化。

讨论：治疗后病情明显改善：患儿能开始行走，疲乏减退，未见新发钙化形成，炎症得以控制。将白细胞介素-1β抑制剂作为原发性肿瘤样钙化的永久治疗手段，使手术部位无任何并发症，同时预防畸形复发。

结论：本研究所述的临床病例展示了极罕见病跨学科治疗方法的应用过程。

作者简介

Veronika Petukhova

Saint Petersburg State Pediatric Medical University

Email: nika_add@mail.ru
ORCID iD: 0000-0002-2358-5529
SPIN 代码: 9451-3030

MD, Clinical Resident of the Department of Children’s Surgical Diseases

俄罗斯联邦, Saint Petersburg

Rena Idrisova

City’s Children’s Hospital No. 1

Email: rena.idrisova2015@mail.ru
ORCID iD: 0000-0002-3440-7963
SPIN 代码: 7257-0795

MD, Pediatrician

俄罗斯联邦, Saint Petersburg

Ludmila Snegireva

Saint Petersburg State Pediatric Medical University

Email: l.s.snegireva@mail.ru
ORCID iD: 0000-0001-6778-4127
SPIN 代码: 7257-0795

MD, Pediatric Rheumatologist of the Pediatric Department No. 3

俄罗斯联邦, Saint Petersburg

Olga Krasnogorskaya

Saint Petersburg State Pediatric Medical University

Email: krasnogorskaya@yandex.ru
ORCID iD: 0000-0001-6256-0669
SPIN 代码: 2460-4480

MD, PhD, Associate Professor of the Department of pathological anatomy with a course of forensic medicine, Head of the Pathology Department of the Clinic

俄罗斯联邦, Saint Petersburg

Evgeny Suspitsyn

Saint Petersburg State Pediatric Medical University; Center of Oncology named after N.N. Petrova

Email: evgeny.suspitsin@gmail.com
ORCID iD: 0000-0001-9764-2090
SPIN 代码: 2362-6304

MD, PhD, Assistant Professor, Department Medical Genetics; Senior Researcher 

俄罗斯联邦, Saint Petersburg

Alexander Veselov

Saint Petersburg State Pediatric Medical University

Email: drveselov@bk.ru
ORCID iD: 0000-0001-6977-3966
SPIN 代码: 7502-2280

MD, PhD, Assistant of the Department of Children’s Surgical Diseases of G.A. Bairov

俄罗斯联邦, Saint Petersburg

Mikhail Kostik

Saint Petersburg State Pediatric Medical University

编辑信件的主要联系方式.
Email: kost-mikhail@yandex.ru
ORCID iD: 0000-0002-1180-8086
SPIN 代码: 7257-0795

MD, PhD, D.Sc., Professor of the Hospital Pediatric Department

俄罗斯联邦, Saint Petersburg

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