[1]孙丽娜,杜国慧,刘俊茹,等.PIK3R1基因突变引起SHORT综合征2例并文献复习[J].国际内分泌代谢杂志,2024,44(03):206-211.[doi:10.3760/cma.j.cn121383-20230221-02049]
 Sun Lina,Du Guohui,Liu Junru,et al.SHORT syndrome caused by PIK3R1 mutation: two cases report and literature review[J].International Journal of Endocrinology and Metabolism,2024,44(03):206-211.[doi:10.3760/cma.j.cn121383-20230221-02049]
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PIK3R1基因突变引起SHORT综合征2例并文献复习 ()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
44
期数:
2024年03期
页码:
206-211
栏目:
病例报告
出版日期:
2024-05-20

文章信息/Info

Title:
SHORT syndrome caused by PIK3R1 mutation: two cases report and literature review
作者:
孙丽娜杜国慧刘俊茹刘博伟
秦皇岛市第一医院内分泌科,秦皇岛 066000
Author(s):
Sun Lina Du Guohui Liu Junru Liu Bowei.
Department of Endocrinology, the First Hospital of Qinhuangdao, Qinhuangdao 066000, China
DOI:
10.3760/cma.j.cn121383-20230221-02049

参考文献/References:

[1] Dyment DA,Smith AC,Alcantara D,et al.Mutations in PIK3R1 cause SHORT syndrome[J].Am J Hum Genet,2013,93(1):158-166.DOI:10.1016/j.ajhg.2013.06.005.
[2] Gorlin RJ,Cervenka J,Moller K,et al.Malformation syndromes.A selected miscellany[J].Birth Defects Orig Artic Ser,1975,11(2):39-50.
[3] Avila M,Dyment DA,Sagen JV,et al.Clinical reappraisal of SHORT syndrome with PIK3R1 mutations:toward recommendation for molecular testing and management[J].Clin Genet,2016,89(4):501-506.DOI:10.1111/cge.12688.
[4] Shvalb NF.SHORT syndrome:an update on pathogenesis and clinical spectrum[J].Curr Diab Rep,2022,22(12):571-577.DOI:10.1007/s11892-022-01495-8.
[5] Kushi R,Hirota Y,Ogawa W.Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway[J].Diabetol Int,2020,12(1):62-67.DOI:10.1007/s13340-020-00455-5.
[6] 李金英,张蔷,付兴娇,等.儿童SHORT综合征一例报道[J].中国糖尿病杂志,2022,30(6):456-458.DOI:10.3969/j.issn.1006-6187.2022.06.012.
[7] 周巧利,顾威.PIK3R1基因突变致SHORT综合征1例[J].中华实用儿科临床杂志,2021,36(11):870-872.DOI:10.3760/cma.j.cn101070-20190718-00655.
[8] 曹冰燕,吴迪,巩纯秀.PIK3R1基因变异引起SHORT综合征一例[J].中华儿科杂志,2021,59(3):228-230.DOI:10.3760/cma.j.cn112140-20200721-00741.
[9] 王焕如,邵晋康.SHORT综合征一例报道[J].中国糖尿病杂志,2022,30(4):291-294.DOI:10.3969/j.issn.1006-6187.2022.04.010.
[10] 臧丽,王娟,吕朝晖,等.SHORT综合征一例并文献复习[J].中华糖尿病杂志,2021,13(12):1166-1169.DOI:10.3760/cma.j.cn115791-20210924-00519.
[11] 陈林,杨育林,胡燕.PIK3R1基因变异致SHORT综合征2例[J].中国临床案例成果数据库,2022,4(1):E02054-E02054.DOI:10.3760/cma.j.cmcr.2022.e02054.
[12] Zhang Y,Ji B,Li J,et al.SHORT syndrome in two Chinese girls:a case report and review of the literature[J].Mol Genet Genomic Med,2020,8(9):e1385.DOI:10.1002/mgg3.1385.
[13] Yin X,Liu J,Feng R,et al.Novel PIK3R1 mutation of SHORT syndrome:a case report with a 6-month follow up[J].J Diabetes Investig,2021,12(10):1919-1922.DOI:10.1111/jdi.13549.
[14] Sun L,Zhang Q,Li Q,et al.A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature[J].BMC Med Genet,2020,21(1):215.DOI:10.1186/s12881-020-01146-3.
[15] Winnay JN,Solheim MH,Dirice E,et al.PI3-kinase mutation linked to insulin and growth factor resistance in vivo[J].Clin Invest,2016,126(4)1401-1412.DOI:10.1172/JCI84005.
[16] Lewandowski KC,Dbrowska K,Brzozowska M,et al.Metformin paradoxically worsens insulin resistance in SHORT syndrome[J].Diabetol Metab Syndr,2019,11:81.DOI:10.1186/s13098-019-0477-z.
[17] Hamaguchi T,Hirota Y,Takeuchi T,et al.Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor[J].J Diabetes Invest,2018,9(5):1224-1227.DOI:10.1111/jdi.12825.
[18] 余佳,杨文利,闫洁,等.儿童Hutchinson-Gilford早老症六例分析[J].中华内分泌代谢杂志,2020,36(1):25-30.DOI:10.3760/cma.j.issn.1000-6699.2020.01.003.
[19] Ramirez L,Tamayo W,Ale H.APDS2 and SHORT syndrome in a teenager with PIK3R1 pathogenic variant[J].Clin Immunol,2020,40(7):1020-1025.DOI:10.1007/s10875-020-00843-1.

备注/Memo

备注/Memo:
通信作者:刘博伟,Email:liubo_wei@126.com
更新日期/Last Update: 2024-05-30