临床儿科杂志 ›› 2021, Vol. 39 ›› Issue (11): 829-.doi: 10.3969/j.issn.1000-3606.2021.11.008

• 遗传代谢疾病专栏 • 上一篇    下一篇

PIK3CD 基因变异致儿童PI3Kδ 过度活化综合征1 型1 例报告并文献复习

谭章华 1, 宋发英 1, 郑红艳 1, 王伟 1, 王磊 1, 沈昌桃 1, 刘兴楼 2   

  1. 1 .巴东县人民医院儿科(湖北恩施 444300);2 .华中科技大学同济医学院附属同济医院儿科 (湖北武汉 430030)
  • 发布日期:2021-11-19
  • 通讯作者: 刘兴楼 电子信箱:liuxinglou@ 163 .com

Activated PI3K Delta syndrome caused by PIK3CD gene mutation in a child: a case report and literature review

TAN Zhanghua1 , SONG Faying1 , ZHENG Hongyan1 , WANG Wei 1 , WANG Lei 1 , SHEN Changtao1 , LIU Xinglou2   

  1. 1.Department of Pediatrics, Badong County People's Hospital, Enshi 144300, Hubei, China;2.Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030 Hubei, China
  • Published:2021-11-19

摘要: 目的 总结PI 3 Kδ过度活化综合征(APDS)的临床诊治。方法 总结1例APDS1型患儿的临床表现、实验 室检查以及基因检测结果和治疗经过。结果 女性患儿,4岁3个月,主要表现为反复出现呼吸道感染、脾大、淋巴结肿大、 肠病,高IgM综合征、T淋巴细胞和CD4+ T淋巴细胞比例下降。经全外显子测序诊断为APDS1型,予以抗感染和丙种球蛋 白治疗,临床症状明显改善。结论 APDS可表现为反复呼吸道感染、淋巴增殖性疾病、肠病以及高IgM综合征等,基因检 测可明确诊断。抗感染和丙种球蛋白替代治疗有效。

关键词: PIK3 CD; PI 3 Kδ过度活化综合征; 基因变异; 儿童

Abstract: Objective To explore the clinical features and treatment of activated PI 3 K 未 syndrome. Methods Clinical manifestations, laboratory examination and genetic testing and treatment in a child with activated PI3K 未 syndrome 1 (APDS) were retrospectively analyzed. Results The main clinical manifestations of this APDS 1 patient were recurrent respiratory tract, splenomegaly, lymph node enlargement, enteropathy, hyper IgM syndrome, decreased proportion of T lymphocytes and CD 4 + T lymphocytes. This patient was diagnosed as activated PI 3 K 未 syndrome 1 by whole exon sequencing, and was treated with antibiotics and gamma globulin, then the clinical symptoms were significantly improved. Conclusions For patients presenting with recurrent respiratory tract infections, lymphoproliferative diseases, bowel diseases, and hyper IgM syndrome, the possibility of activated PI 3 K 未 syndrome should be considered, and genetic testing should be performed when necessary to confirm the diagnosis. Combination of antibiotics and gamma globulin replacement therapy could achieve a good clinical outcome.

Key words: PIK 3 CD; APDS 1 ; gene mutation; child