| 朱小慧,陈蒙.Jacobsen综合征伴反复喘息 1例[J].安徽医药,2026,30(6):1219-1222. |
| Jacobsen综合征伴反复喘息 1例 |
| One case report of Jacobsen syndrome with recurrent wheezing |
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| DOI：10.3969/j.issn.1009-6469.2026.06.031 |
| 中文关键词: Jacobsen综合征 喘息 免疫缺陷 发育迟缓 全外显子组测序 |
| 英文关键词: Jacobsen syndrome Wheezing Immunodeficiency Developmental delay Whole exome sequencing |
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| 中文摘要: |
| 目的总结 Jacobsen综合征伴反复喘息诊治经验。方法收集并分析南京医科大学附属儿童医院 2021年 4月诊断的 1例 2岁病儿 Jacobsen综合征伴反复喘息的临床资料。结果该病儿生后多次喘息，全面发育迟缓。前额宽，眼距宽，双眼外斜，毛发稀疏、卷曲、枯黄，双脚大拇趾粗长。全外显子组测序( WES)进行分析，发现病儿 11号染色体长臂 11q24.1q25存在大小约 10.86 Mb的拷贝数缺失，该区域包括 Jacobsen综合征缺失区域。经抗感染、平喘及对症支持治疗后症状缓解，但免疫功能低下及发育迟缓问题持续存在。结论病儿有反复感染、发育迟缓、颅面部和四肢畸形，免疫缺陷或抗体缺乏等临床表现，需考虑 Jacobsen综合征，及时完善 WES尽早明确诊断。 |
| 英文摘要: |
| Objective To summarize the diagnostic and therapeutic experience of Jacobsen syndrome (JBS) with recurrent wheezing. Methods We collected and analyzed the clinical case of a 2-year-old patient diagnosed with JBS at the Children's Hospital of Nan. jing Medical University in April 2021.Results The patient presented with recurrent wheezing since birth and global developmentaldelay. Physical examination revealed distinctive features including a broad forehead, hypertelorism, exotropia, sparse, curly, and brittlehair, as well as broad and elongated great toes. Whole exome sequencing (WES) identified a copy number loss of approximately 10.86Mb on chromosome 11q24.1q25, encompassing the region associated with Jacobsen syndrome. Symptoms were alleviated after anti-in. fective, anti-asthmatic, and symptomatic supportive therapy; however, immunodeficiency and developmental delays persisted.Conclu. sions This case underscores that JBS should be considered in children with recurrent infections, developmental delay, craniofacialand limb abnormalities, and features suggestive of immunodeficiency or antibody deficiency. Genetic testing, such as WES, should bedone timely in achieving an early and definitive diagnosis. |
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