选择性免疫抑制剂托法替尼在伴有骨关节炎表现的多发性骨骺发育不良患儿中的应用经验。临床病例描述

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详细

多发性骨骺发育不良是一组骨关节系统疾病，其遗传学基础具有多样性，遗传方式及临床表现差异显著。该类疾病常见且不良的结局之一是在骨关节炎背景下发生髋关节骨关节炎，并伴随股骨头脱位。发性骨骺发育不良患儿的骨关节炎在临床及影像学表现上常可模拟幼年特发性关节炎的病程。非甾体抗炎药被认为在病理发生机制上具有合理性，但并非始终有效。目前，免疫抑制治疗对多发性骨骺发育不良患儿骨关节炎病程的影响尚缺乏研究。本文报道1例11岁多发性骨骺发育不良4型患儿成功应用选择性免疫抑制剂托法替尼的临床病例。该疾病以骨关节炎为主要表现，并形成右侧股骨头脱位。未获得支持幼年特发性关节炎病程的相关证据。长期应用非甾体抗炎药未取得预期疗效。给予托法替尼（Janus激酶抑制剂）治疗，剂量为10 mg/日，分2次口服，并联合机械治疗后，患儿骨关节炎症状得到缓解，并对股骨头脱位进展起到预防作用。众所周知，Janus激酶抑制剂属于靶向合成型基础抗炎药物。该类抑制剂在疗效上与传统用于治疗幼年特发性关节炎的基因工程生物制剂相当。该类药物通过选择性阻断促炎性细胞因子的信号传导通路发挥抗炎作用。选择性Janus激酶抑制剂在风湿病学中的应用经验，为其在伴有骨关节炎表现的骨骼发育不良患儿中的使用提供了理论依据。多发性骨骺发育不良4型是一种进展过程中不可避免导致髋关节骨关节炎及股骨头脱位的骨骼发育不良。在伴有骨关节炎表现的此类骨骼发育不良患儿中，应用Janus激酶抑制剂可能是合理且具有良好前景的。

作者简介

Aleksey Kozhevnikov

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

编辑信件的主要联系方式.
Email: infant_doc@mail.ru
ORCID iD: 0000-0003-0509-6198
SPIN 代码: 1230-6803

MD, Cand. Sci. (Medicine)

俄罗斯联邦, Saint Petersburg

Evgenii Melchenko

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: emelchenko@gmail.com
ORCID iD: 0000-0003-1139-5573
SPIN 代码: 1552-8550

MD, Cand. Sci (Medicine)

俄罗斯联邦, Saint Petersburg

Nikita Shabaldin

Kemerovo State Medical University

Email: shabaldin.nk@yandex.ru
ORCID iD: 0000-0001-8628-5649
SPIN 代码: 6283-2581

MD, Cand. Sci. (Medicine), Assistant Professor

俄罗斯联邦, Kemerovo

Vladimir Kenis

H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Email: kenis@mail.ru
ORCID iD: 0000-0002-7651-8485
SPIN 代码: 5597-8832

MD, Dr. Sci. (Medicine), Professor

俄罗斯联邦, Saint Petersburg

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