切换至 "中华医学电子期刊资源库"

中华临床医师杂志(电子版) ›› 2024, Vol. 18 ›› Issue (10) : 965 -969. doi: 10.3877/cma.j.issn.1674-0785.2024.10.014

病例报告

儿童PI3Kδ 过度活化综合征一例
张睿1, 吴亚斌2, 陈霞2,()   
  1. 1.430000 武汉,湖北医药学院湖北省妇幼保健院研究生培养基地
    2.43000 武汉,华中科技大学附属湖北妇幼保健院儿童呼吸内科
  • 收稿日期:2024-09-13 出版日期:2024-10-15
  • 通信作者: 陈霞

Activated PI3Kδ syndrome in a child: a case report and literature review

Rui Zhang, Yabin Wu, Xia Chen()   

  • Received:2024-09-13 Published:2024-10-15
  • Corresponding author: Xia Chen
引用本文:

张睿, 吴亚斌, 陈霞. 儿童PI3Kδ 过度活化综合征一例[J/OL]. 中华临床医师杂志(电子版), 2024, 18(10): 965-969.

Rui Zhang, Yabin Wu, Xia Chen. Activated PI3Kδ syndrome in a child: a case report and literature review[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(10): 965-969.

图1 副鼻窦及胸部CT。图a 为左侧上中鼻道及左侧上颌窦团块状组织影;图b 为双肺散在感染,右中叶支气管扩张
图2 电子支气管镜。图a 为左侧鼻腔通道内息肉样新生物,表面光滑,近乎完全堵塞鼻腔;图b 为右中叶脓性分泌物;图c 为右中叶内、外侧段5~6 级支气管可见“鱼骨征”
图3 左侧上颌窦口新生物组织病理。图a 为表面复层扁平上皮,图b 为粘液腺及骨组织
图4 先证者与其父母亲的基因测序结果。①表示先证者,②表示父亲,③表示母亲
图5 治疗后复查胸部CT。图a 及图b 为局部支气管扩张较前好转
1
Jamee M, Moniri S, Zaki-Dizaji M, et al.Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS):a systematic review [J].Clin Rev Allergy Immunol, 2020, 59(3): 323-333.
2
Angulo I, Vadas O, Garçon F, et al.Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage [J].Science, 2013, 342(6160): 866-871.
3
刘辉, 唐晓蕾, 刘金荣, 等.PIK3CD 基因突变所致激活PI3K-δ 综合征的临床特点和基因分析 [J].中华儿科杂志, 2016, 54(9): 698-702.
4
Lucas CL, Chandra A, Nejentsev S, et al.PI3Kδ and primary immunodeficiencies [J].Nat Rev Immunol, 2016, 16(11): 702-714.
5
Coulter TI, Chandra A, Bacon CM, et al.Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study [J].J Allergy Clin Immunol, 2017, 139(2): 597-606.e4.
6
Vanselow S, Wahn V, Schuetz C.Activated PI3Kδ syndrome -reviewing challenges in diagnosis and treatment [J].Front Immunol,2023, 14: 1208567.
7
Wentink M, Dalm V, Lankester AC, et al.Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections [J].Clin Immunol,2017, 176: 77-86.
8
Elkaim E, Neven B, Bruneau J, et al.Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study [J].J Allergy Clin Immunol, 2016, 138(1):210-218.e9.
9
Brodsky NN, Lucas CL.Infections in activated PI3K delta syndrome(APDS) [J].Curr Opin Immunol, 2021, 72: 146-157.
10
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, et al.Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan [J].Immunol Med, 2023, 46(4): 153-157.
11
高君伟, 刘皋林.自身免疫性疾病的药物治疗 [J/OL].中华临床医师杂志(电子版), 2023, 17(12): 1209-1211.
12
Maccari ME, Abolhassani H, Aghamohammadi A, et al.Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the European society for immunodeficienciesactivated phosphoinositide 3-kinase δ syndrome registry [J].Front Immunol, 2018, 9: 543.
13
Rao VK, Webster S, Šedivá A, et al.A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome [J].Blood, 2023, 141(9): 971-983.
14
Nademi Z, Slatter MA, Dvorak CC, et al.Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome [J].J Allergy Clin Immunol, 2017, 139(3): 1046-1049.
15
中华医学会儿科学分会免疫学组, 中华儿科杂志编辑委员会.原发性免疫缺陷病免疫球蛋白G 替代治疗专家共识 [J].中华儿科杂志, 2019, 57(12): 909-912.
16
杨夏影, 马银娟, 潘耀柱.PI3Kδ 过度活化综合征诊疗进展 [J].中国现代医学杂志, 2021, 31(6): 71-78.
17
Dimitrova D, Nademi Z, Maccari M E, et al.International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome[J].Journal of Allergy and Clinical Immunology,2022, 149(1): 410-421.e7.
18
中华医学会儿科学分会免疫学组.原发性免疫缺陷病的早期识别线索 [J].中华儿科杂志, 2015, 53(12): 893-897.
No related articles found!
阅读次数
全文


摘要