| 李玉婷,李蕾,郭兴青,曲政海,管仁政,王芳.儿童高IgE综合征1例报告并文献复习[J].济宁医学院学报,2024,47(3):261-264 |
| 儿童高IgE综合征1例报告并文献复习 |
| HIES in children:a case report and literature review |
| 投稿时间：2022-07-05 |
| DOI：10.3969/j.issn.1000-9760.2024.03.022 |
| 中文关键词: 高IgE综合征;突变;STAT3基因 |
| 英文关键词: Hyper-IgE syndrome;Mutation;STAT3 gene |
| 基金项目: |
| 作者 | 单位 | E-mail | | 李玉婷 | 青岛大学医学部, 青岛 266000
济南市妇幼保健院儿科, 济南 250002 | | | 李蕾 | 青岛大学附属医院儿童呼吸心血管内科, 青岛 266000 | lilei15210@qdu.edu.cn | | 郭兴青 | 青岛大学附属医院儿童呼吸心血管内科, 青岛 266000 | | | 曲政海 | 青岛大学附属医院儿童呼吸心血管内科, 青岛 266000 | | | 管仁政 | 青岛大学附属医院儿童呼吸心血管内科, 青岛 266000 | | | 王芳 | 青岛大学附属医院儿童呼吸心血管内科, 青岛 266000 | |
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| 中文摘要: |
| 为了提高对儿童高IgE综合征(hyper-IgE syndrome,HIES)的认识,通过分析我院收治的1例HIES患儿及其家庭成员临床资料,完善患儿及父母免疫缺陷相关基因检测。患儿1岁6个月,因“阵发性咳嗽半月,发热2d”入院,既往有9～10次呼吸道感染史,其中5次诊断为“肺炎”,经检测IgE明显升高,胸部CT示双肺可见多发斑片状影,边界模糊。右肺上叶部分肺实变,内见支气管影。予以抗感染、人免疫球蛋白及雾化治疗,复查胸部CT:右肺上叶肺炎较前明显减小、好转。基因结果显示患儿STAT3基因有1个杂合突变(c.1144C＞T)。结合相关文献,HIES分为常染色体显性遗传型(AD-HIES)和常染色体隐性遗传型(AR-HIES)。AD-HIE占所有HIES的60%～70%,目前唯一已知的AD-HIES致病基因是STAT3。对于因反复肺炎住院的患儿,同时有肺脓肿、反复皮疹、皮肤脓疱的临床表现,要提高警惕,完善相关检查,进行NIH评分,必要时行HIES 相关基因检测,以免延误诊断。 |
| 英文摘要: |
| To raise the awareness of HIES in children by analyzing the clinical data of one patient with HIES admitted to our hospital and his family members,the immunodeficiency related genes testing was performed for the patient and his parents.The patient aged 1 year 6 months attended the hospital due to "paroxysmal cough for half a month,fever for 2 days".Previously he had 9-10 respiratory infections,5 of which were diagnosed as "pneumonia".Laboratory examination showed a significant increase in IgE,and thoracic CT showed that multiple patchy shadows with blurred boundary were observed in bilateral lung and partial pulmonary consolidation in the right upper lobe with bronchial shadows.The patient was given treatment including anti-infection,immunoglobulin and aerosol inhalation.Reexamination of thoracic CT showed that right upper lobe pneumonia significantly decreased and improved than before.Genetic test Results revealed that the patient had the c.1144delCT heterozygous mutation in the STAT3gene.Relevant articles were reviewed. HIES can be classified into 2 types: autosomal dominant HIES(AD-HIES) and autosomal recessive HIES(AR-HIES).Presently STAT3 is the only known pathogenic gene of AD-HIES which accounting for 60%-70% of all HIES. Children hospitalized with recurrent pneumonia,lung abscess,recurrent rash and skin pustules should be paid attention that consummating relevant examinations,performing NIH score,and HIES-related genetic testing are necessary to avoid delay in diagnosis. |
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