以荨麻疹为首发的全身型幼年特发性关节炎的诊治思考

doi:10.12372/jcp.2026.25e1599

摘要/Abstract

摘要：

报道1例8岁6月龄女性患儿，以反复全身性荨麻疹样皮损及弛张高热为主要表现，初期拟诊为“慢性荨麻疹”，经常规抗感染、抗组胺及糖皮质激素治疗效果不佳，病程中出现一过性关节痛、多浆膜腔积液、淋巴结肿大表现，并激素减量后迅速出现高炎症状态及血小板降低、铁蛋白显著升高、高甘油三酯及低纤维蛋白原等改变，在排除感染、肿瘤性疾病后，最终诊断为全身型幼年特发性关节炎（SJIA）合并巨噬细胞活化综合征（MAS）。患儿经大剂量激素冲击、环孢素及芦可替尼等多靶点免疫抑制治疗后病情逐渐控制。本文结合该病例，重点探讨以荨麻疹样皮损为首发表现疾病的鉴别诊断、诊断思路及早期识别策略，旨在提升儿科医生提高对此类表现疾病的诊疗能力。

关键词: 荨麻疹, 全身型幼年特发性关节炎, 巨噬细胞活化综合征

Abstract:

This article reports the case of an 8-year-and-6-month-old female who presented with recurrent generalized urticarial lesions and remittent high fever. Initially suspected as chronic urticaria, her condition showed poor response to conventional treatments including anti-infectives, antihistamines, and glucocorticoids. The disease progressed rapidly with multisystem involvement and a marked elevation in inflammatory markers. Through multidisciplinary collaboration and systematic evaluation, she was ultimately diagnosed with systemic juvenile idiopathic arthritis (SJIA) complicated by macrophage activation syndrome (MAS). Her condition was gradually controlled with multitarget immunosuppressive therapy, including high-dose glucocorticoid pulse therapy, cyclosporine, and ruxolitinib. Based on this case, this article focuses on the differential diagnosis, diagnostic approach, and early recognition strategies for diseases presenting initially with urticarial lesions, aiming to enhance pediatricians' ability in the diagnosis and management of such conditions, thereby enabling early screening, intervention, and improved prognosis for complex and critical cases.

Key words: urticaria, systemic juvenile idiopathic arthritis, macrophage activation syndrome

中图分类号:

章启豪, 任韵清. 以荨麻疹为首发的全身型幼年特发性关节炎的诊治思考[J]. 临床儿科杂志, 2026, 44(5): 445-452.

ZHANG Qihao, REN Yunqing. Urticaria as the initial manifestation of systemic juvenile idiopathic arthritis: a clinical perspective[J]. Journal of Clinical Pediatrics, 2026, 44(5): 445-452.

图/表 5

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表1

患儿病程时间轴"

时间	临床表现与检查，药物治疗情况
入院前2月余	全身散在红斑、风团，伴瘙痒，无发热，诊断“荨麻疹”，外院予抗组胺药口服
入院前5 d	出现高热，水肿性红斑新发，持续时间超过24 h，消退后遗留色素沉着；CRP显著升高（137.72 mg/L），外院予甲基泼尼松龙、头孢曲松、抗组胺药治疗，效果不佳
入院时	体温正常，红斑散在，炎症指标升高（WBC 12.73×10⁹/L，CRP 22.58 mg/L），予奥马珠单抗150 mg皮下注射，甲基泼尼松龙40 mg q12h静滴，头孢曲松抗感染
入院第4 d	皮损消退，炎症指标好转（CRP 7.7 mg/L），甲基泼尼松龙减量至20 mg q12h静滴
入院第6 d	再次发热，WBC升至37.91×10⁹/L，CRP 62.81 mg/L，停头孢曲松，升级为美罗培南+利奈唑胺，停用甲基泼尼松龙
入院第11 d	WBC 25.38×10⁹/L，CRP 98.58 mg/L，继续抗感染治疗，完善相关检查
入院第14 d	WBC下降至11.01×10⁹/L，PLT下降至193×10⁹/L，CRP 206.2 mg/L，AST 137 U/L，TG 3.80 mmol/L，铁蛋白 82 909.4 μg/L，骨髓涂片提示感染表现；影像学提示多系统受累（胸腔积液、心包积液、肝大等），经多学科讨论，诊断为SJIA合并MAS，转至风湿科，予大剂量甲基泼尼松龙冲击治疗（1 g/d×3 d）
入院第17 d	甲基泼尼松龙改30 mg q12h维持，体温仍有波动，加用环孢素75 mg q12h
入院第20 d	仍有间断发热，MAS指标改善不明显，再次予大剂量甲基泼尼松龙冲击治疗（1 g/d×3 d），后改甲基泼尼松龙 30 mg q12h维持
入院第28 d	激素减量后仍有体温波动，发热后有新发皮损，相关检查提示MAS控制不佳，并出现呼吸困难，故加用IVIg 20 g×2 d、吸氧支持
入院第38 d	因肠道感染再次发热，MAS指标再次异常，予头孢曲松钠2 g qd静滴抗感染，D44加用芦可替尼10 mg bid，病情缓解后激素改为口服维持
出院	体温稳定，炎症指标改善，继续免疫抑制治疗，门诊长期随访

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