Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (10): 1155-1160.DOI: 10.11852/zgetbjzz2023-1070

• Case Report • Previous Articles    

Case report and literarure review of aldosterone synthase deficiency caused by CYP11B2 gene mutation

He Xiumei1, Cao Wenqi1, WU Honglin1, Zhou Qifeng1, HE Xiyu2   

  1. 1. Department of Pediatrics,Fifth Medical Center,Chinese People′s Liberation Army General Hospital,Beijing 100071,China;
    2. Department of Pediatric Medicine,7th Medical Center of PLA,Beijing 100070,China
  • Received:2023-10-19 Revised:2024-02-29 Online:2024-10-10 Published:2024-10-11

CYP11B2基因变异致醛固酮合成酶缺乏症1例并文献复习

和秀梅1,2, 曹闻琦 2,3, 吴虹林1, 周启凤2,3, 何玺玉1,2,3   

  1. 1.中国人民解放军总医院第五医学中心儿科,北京 100071;
    2.中国人民解放军第七医学中心儿科医学部,北京 1000103;
    3.中国人民解放军医学院
  • 通讯作者: 何玺玉,E-mail:hxyjs200127@aliyun.com
  • 作者简介:和秀梅(1985-),女,主治医师,硕士学位,主要研究方向儿童遗传内分泌疾病。
  • 基金资助:
    军队计生专项(21JSZ16)

关键词: 醛固酮合成酶缺乏症, CYP11B2基因, 基因型和表型

CLC Number: