| 肖荣州,封其华.DCLRE1C基因突变致 Omenn综合征 1例[J].安徽医药,2024,28(11):2275-2278. |
| DCLRE1C基因突变致 Omenn综合征 1例 |
| Omenn syndrome caused by DCLRE1C gene mutation: a case report |
| |
| DOI：10.3969/j.issn.1009-6469.2024.11.034 |
| 中文关键词: 重症联合免疫缺陷 皮炎 Omenn综合征 造血干细胞移植 |
| 英文关键词: Severe combined immunodeficiency Dermatitis Omenn syndrome Hematopoietic stem cell transplantation |
| 基金项目: |
|
| 摘要点击次数: 426 |
| 全文下载次数: 5 |
| 中文摘要: |
| 目的探索 Omenn综合征的诊断及治疗经验。方法总结苏州大学附属儿童医院 2021年收治的 1例 Omenn综合征的诊断及治疗过程。结果男， 2岁 4个月，发现皮疹 10个月余入院，既往有多次感染病史，累及多个系统，均予头孢类抗生素治疗后好转出院，此次第 5次入院后予药物对症治疗皮疹基本消退，并完善基因检查提示 Omenn综合征、重症联合免疫缺陷 Athabascan型相关基因 DCLRE1C存在两处杂合突变，家系验证为复合杂合突变，最终予造血干细胞移植治疗成功，目前无病生存。结论临床上当病儿既往存在反复感染、红皮病等表现时应警惕 Omenn综合征，尽早完善基因检测及骨髓移植是根治该疾病的重要手段。 |
| 英文摘要: |
| Objective To explore the diagnosis and treatment experience of Omenn Syndrome.Methods The diagnosis and treatment process of a case of Omenn syndrome from Children's Hospital of Soochow University in 2021 were summarized.Results The patient, male, aged 2 years and 4 months, was admitted to the hospital with a rash found for more than 10 months. He had a history of multiple infections, involving multiple systems, and was treated with cephalosporins, finally he was discharged from the hospital. After thefifth admission, the rash basically subsided after targeted drug treatment, and complete genetic testing revealed two heterozygous mutations in the DCLRE1C gene related to Omen syndrome and severe combined immunodeficiency Athabascan type. The family confirmedit as a compound heterozygous mutation. The final treatment with hematopoietic stem cell transplantation was successful, and currentlyhe is disease-free survival.Conclusions In clinical practice, when children have previous symptoms such as recurrent infections anderythroderma, they should be vigilant against Omenn syndrome. Improving gene testing and bone marrow transplantation as soon as possible are important means to cure this disease |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
