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, 曹闻琦 , 吴虹林, 周启凤, 何玺玉

中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (10) : 1155-1160.

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中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (10) : 1155-1160. DOI: 10.11852/zgetbjzz2023-1070
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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
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Case report and literarure review of aldosterone synthase deficiency caused by CYP11B2 gene mutation

  • He Xiumei1, Cao Wenqi1, WU Honglin1, Zhou Qifeng1, HE Xiyu2
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和秀梅, 曹闻琦 , 吴虹林, 周启凤, 何玺玉. CYP11B2基因变异致醛固酮合成酶缺乏症1例并文献复习[J]. 中国儿童保健杂志. 2024, 32(10): 1155-1160 https://doi.org/10.11852/zgetbjzz2023-1070
He Xiumei, Cao Wenqi, WU Honglin, Zhou Qifeng, HE Xiyu. Case report and literarure review of aldosterone synthase deficiency caused by CYP11B2 gene mutation[J]. Chinese Journal of Child Health Care. 2024, 32(10): 1155-1160 https://doi.org/10.11852/zgetbjzz2023-1070
中图分类号: R725.9   

参考文献

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[6] Faingelernt Y,Hershkovitz E,Abu-Libdeh B,et al.Aldosterone synthase (CYP11B2) deficiency amongpalestinian infants:Three novel variants and genetic heterogeneity[J].Am J Med Genet A,2021,185(4):1033-1038.
[7] Turan H,Akr A D,Zer Y,et al.Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2:Novel mutations in CYP11B2[J].Journal of Clinical Research in Pediatric Endocrinology,2020,13(2):232-238.
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[11] 杨海花,陈琼,张璐,等.一例醛固酮合成酶缺乏症患儿的临床及基因变异分析[J].中华医学遗传学杂志,2021,38(9):4.
Yang HH,Chen Q,Zhang L,et al.Clinical and genetic variation analysis of a child with aldosterone synthetase deficiency[J].Chinese Journal of Medical Genetics,2021,38(9):4.(in Chinese)
[12] 赵方圆.1例CYP11B2基因突变导致醛固酮合成酶缺乏症的临床分析[D].杭州:浙江大学,2019.
Zhao FY.Clinical analysis of a case of aldosterone synthetase deficiency caused by CYP11B2 gene mutation [D].Hangzhou:Zhejiang University,2019.(in Chinese)
[13] 徐爱晶,梅慧芬,程静,等.CYP11B2基因突变致醛固酮合成酶缺乏症一例并文献复习[J].中国小儿急救医学,2023,30(1):68-71.
Xu AJ,Mei HF,Cheng J,et al.A case study of aldosterone synthetase deficiency induced by CYP11B2 gene mutation and literature review[J].Chinese Journal of Pediatric Emergency Medicine,2019,30(1):68-71.(in Chinese)
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[15] Wu,YC,Chen,CI,Chen,PY,et al.GRAde:A long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism[J].BMC Bioinformatics.2022,22 (Suppl 10):613.
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军队计生专项(21JSZ16)

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