| 姚恒潘,刘怡静,乔静,等.新发 A20单倍剂量不足 1例的诊治及基因检测分析[J].安徽医药,2026,30(11):2294-2298. |
| 新发 A20单倍剂量不足 1例的诊治及基因检测分析 |
| Diagnosis, treatment and genetic testing analysis of a child with haploinsufficiency of A20 |
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| DOI：10.3969/j.issn.1009-6469.2026.11.033 |
| 中文关键词: 单倍剂量不足 肿瘤坏死因子 α诱导蛋白 3 基因 突变 儿童 |
| 英文关键词: Haploinsufficiency Tumor necrosis factor α-induced protein 3 Genes Mutation Child |
| 基金项目:河南省医学科技攻关省部共建重点计划项目( SBGJ202002125) |
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| 中文摘要: |
| 目的分析 1例 A20单倍剂量不足( HA20)病儿的临床特征、基因变异、治疗及预后，提高该病早期鉴别及诊断水平。方法回顾性分析郑州大学附属儿童医院确诊的1例 HA20病儿临床资料，并进行文献复习。结果1岁6个月男性病儿，以反复发热、腹泻及口腔溃疡为主要临床表现，无肛周脓肿、关节肿痛及皮疹等；红细胞沉降率 86 mm/h，C反应蛋白 12.25 mg/ L，均高于正常；肠镜提示回盲部及结肠黏膜充血，伴有多发溃疡。基因测序显示 TNFAIP3基因第 7外显子存在移码变异 c.1903_1906delAAAC，导致氨基酸改变为 p.K635fs*61，通过蛋白质三级结构预测发现该变异影响 A20蛋白的空间结构。因此，该导致截短型 A20蛋白表达的突变被认定为致病性变异。病儿接受肠内营养、甲泼尼龙及沙利度胺治疗，目前无腹泻及发热，体质量增长良好。结论 HA20是一种罕见的单基因早发性自身炎症性疾病，具有多种临床表型。该病例丰富了 TNFAIP3基因变异谱，有助于该类疾病早期诊断及治疗。 |
| 英文摘要: |
| Objective To explore the clinical characteristics, gene variation, treatment and prognosis in a child with haploinsufficien-cy of A20 (HA20).Methods This retrospective analysis examined the clinical data of a single HA20 pediatric patient diagnosed at theChildren's Hospital Affiliated to Zhengzhou University, along with a review of the relevant literature.Results A 1 year and 6 monthsold male patient presented with recurrent fever, diarrhea and oral ulcers, without perianal abscess, joint swelling and pain, rash, etc. El-evation of C-reactive protein(12.25 mg/L) and erythrocyte sedimentation rate(86 mm/h) were found. Colonoscopy revealed hyperemia ofthe ileocecal region and colonic mucosa, accompanied by multiple ulcers. Gene sequencing revealed a frameshift mutation in the cod-ing region of exon 7 of the TNFAIP3 gene: c.1903_1906delAAAC, resulting in a change in amino acids to p K635fs * 61. The predic-tion results of the tertiary structure of the protein indicated that variation might affect the spatial structure of protein. Therefore, this mu-tation that leads to the expression of the truncated A20 protein is classified as a pathogenic variant.The patient received enteral nutri-tion, methylprednisolone and thalidomide treatment. The clinical symptoms of the patient was relieved, and his growth and developmentwere improved.Conclusions HA20 is a rare early-onset monogenic autoinflammatory disease with multiple clinical phenotypes. Forchildren with recurrent fever, oral ulcers, and refractory diarrhea, genetic testing is beneficial for early diagnosis and treatment. |
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