| 摘要: |
| 目的:探讨沙利度胺(THD)、阿达木单抗(ADA)治疗儿童A20 单倍剂量不足(HA20)的有效性及安全性。方法:回顾性
分析1 例HA20 患儿先后予THD、ADA 治疗的病例资料,并进行相关文献复习。结果:患儿,女,5 岁,主因“反复发热、口腔、肛
周溃疡2 年,复发伴呕吐1 d”入院。患儿2 年前首次发病,表现为高热、口腔、肛周溃疡,间断伴皮疹、关节疼痛,抗感染治疗效
果欠佳,多次急性期给予静脉滴注甲泼尼龙琥珀酸钠,症状缓解后口服泼尼松维持治疗,但仍容易反复,完善基因检测提示
TNFAIP3 基因缺失,确诊HA20,先后予THD、ADA 治疗,THD 治疗期间患儿出现四肢瘙痒,再次体温反复、皮疹、关节疼痛,考虑
THD 不良反应及控制不良,调整为ADA,获得临床缓解及炎症指标恢复正常,随访4 个月未见复发。结论:THD 治疗该例HA20
患儿效果有限,无法控制其病情,且出现四肢瘙痒等不良反应,临床应用需谨慎并密切监测;ADA 替代治疗后,短期疗效及安全
性良好;ADA 可作为儿童难治性HA20 的有效治疗选择。 |
| 关键词: 儿童 A20 单倍剂量不足 沙利度胺 阿达木单抗 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2026.08.009 |
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| 基金项目:基金项目:内蒙古自治区社会科学基金2025 年常规项目,编号2025HZY05。 |
|
| Haploinsufficiency of A20 with Thalidomide Intolerance Treated by Sequential Adalimumab Therapy: a CaseReport and Literature Review |
| Yun Ruifen1, Li Ruifeng1, Yu Qiong1, Wang Qiang2 |
| (1. Inner Mongolia Autonomous Region Maternity and Child Health Hospital,
Hohhot 010020, China; 2. School of Economics and Management, Inner Mongolia University of Technology, Hohhot 010051, China) |
| Abstract: |
| Objective: To explore the efficacy and safety of thalidomide (THD) and adalimumab (ADA) in the treatment of children
with haploinsufficiency of A20 (HA20). Methods: Retrospective analysis was performed on clinical data of a child with HA20 who
received sequential treatment with THD and ADA, and relevant literature review was conducted. Results: A 5-year-old girl was admitted
due to recurrent fever, oral and perianal ulcers for more than 2 years, accompanied by vomiting for 1 d. The child initially presented
with high fever, oral and perianal ulcers, intermittent rash and arthralgia over 2 years ago, with poor response to anti-infection therapy.
Acute-stage intravenous infusion of methylprednisolone succinate and maintenance oral prednisone were used to relieve symptoms,
whereas disease relapse frequently occurred. Genetic testing confirmed TNFAIP3 gene deletion, and the diagnosis of HA20 was
established. The patient was treated with THD followed by ADA in sequence. Limb pruritus occurred during THD administration, along
with recurrent fever, rash and arthralgia, indicating unsatisfactory disease control and adverse drug reaction of THD. After switching to
ADA therapy, complete clinical remission and normalized inflammatory indicators were achieved, with no disease recurrence during more
than 4 months of follow-up. Conclusion: THD treatment has limited efficacy on this child with HA20, unable to control the disease, and
causes adverse drug reactions such as itching in the limbs. Clinical application should be paid attention and close monitoring is
necessary. ADA substitution treatment has achieved satisfactory short-term efficacy and safety, and can be used as an effective treatment
option for refractory HA20 in children. |
| Key words: children haploinsufficiency of A20 thalidomide adalimumab |
