[1]李玛丽,邱世超,李佳,等.青少年起病的成人型糖尿病12型1例暨文献复习[J].国际内分泌代谢杂志,2024,44(01):55-58.[doi:10.3760/cma.j.cn121383-20220921-09038]
 Li Mali,Qiu Shichao,Li Jia,et al.Maturity-onset diabetes of the young type 12: a case report and literature review[J].International Journal of Endocrinology and Metabolism,2024,44(01):55-58.[doi:10.3760/cma.j.cn121383-20220921-09038]
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青少年起病的成人型糖尿病12型1例暨文献复习()
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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01期
页码:
55-58
栏目:
病例报告
出版日期:
2024-01-20

文章信息/Info

Title:
Maturity-onset diabetes of the young type 12: a case report and literature review
作者:
李玛丽邱世超李佳刘超汪治华
西安市儿童医院内分泌遗传代谢科,西安 710003
Author(s):
Li Mali Qiu Shichao Li Jia Liu Chao Wang Zhihua
Department of Endocrinology, Genetics and Metabolism, Xi'an Children's Hospital, Xi'an 710003, China
DOI:
10.3760/cma.j.cn121383-20220921-09038

参考文献/References:

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[2] Aarthy R,Aston-Mourney K,Mikocka-Walus A,et al.Clinical features,complications and treatment of rarer forms of maturity-onset diabetes of the young(MODY)-A review[J].J Diabetes Complications,2021,35(1):107640.DOI:10.1016/j.jdiacomp.2020.107640.
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[6] Tang C,Meng L,Zhang P,et al.Case Report:a novel ABCC8 variant in a Chinese pedigree of maturity-onset diabetes of the young[J].Front Endocrinol(Lausanne),2021,12:758723.DOI:10.3389/fendo.2021.758723.
[7] Lin L,Quan H,Chen K,et al.ABCC8-Related maturity-onset diabetes of the young(MODY12):a report of a chinese family[J].Front Endocrinol(Lausanne),2020,11:645.DOI:10.3389/fendo.2020.00645.
[8] 罗越,金佳蕙,李利义,等.一例青少年起病的成人型糖尿病12型患儿的基因变异分析[J].中华医学遗传学杂志,2021,38(9):891-894.DOI:10.3760/cma.j.cn511374-20200626-00476.
[9] Zhang Y,Hu S,Huang H,et al.A case report of maturity-onset diabetes of the young 12:large fragment deletion in ABCC8 gene with literature review[J].Ann Transl Med,2022,10(6):378.DOI:10.21037/atm-22-807.
[10] Li J,Wang X,Mao H,et al.Precision therapy for three Chinese families with maturity-onset diabetes of the young(MODY12)[J].Front Endocrinol(Lausanne),2022,13:858096.DOI:10.3389/fendo.2022.858096.
[11] Zhou Y,Sun Y,Xu C,et al.ABCC8-related maturity-onset diabetes of the young:clinical features and genetic analysis of one case[J].Pediatr Diabetes,2022,23(5):588-596.DOI:10.1111/pedi.13388.
[12] Ovsyannikova AK,Rymar OD,Shakhtshneider EV,et al.ABCC8-Related maturity-onset diabetes of the young(MODY12):clinical features and treatment perspective[J].Diabetes Ther,2016,7(3):591-600.DOI:10.1007/s13300-016-0192-9.
[13] Hartemann-Heurtier A,Simon A,Bellanné-Chantelot C,et al.Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes[J].Diabetes Metab,2009,35(3):233-235.DOI:10.1016/j.diabet.2009.01.003.
[14] Timmers M,Dirinck E,Lauwers P,et al.ABCC8 variants in MODY12:review of the literature and report of a case with severe complications[J].Diabetes Metab Res Rev,2021,37(8):e3459.DOI:10.1002/dmrr.3459.
[15] Nichols CG.KATP channels as molecular sensors of cellular metabolism[J].Nature,2006,440(7083):470-476.DOI:10.1038/nature04711.
[16] Mohan V,Radha V,Nguyen TT,et al.Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young(MODY)patients in South India[J].BMC Med Genet,2018,19(1):22.DOI:10.1186/s12881-018-0528-6.
[17] Ik E,Demirbilek H,Houghton JA,et al.Congenital hyperinsulinism and evolution to sulfonylurearesponsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation[J].J Clin Res Pediatr Endocrinol,2019,11(1):82-87.DOI:10.4274/jcrpe.galenos.2018.2018.0077.
[18] Riveline JP,Rousseau E,Reznik Y,et al.Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations[J].Diabetes Care,2012,35(2):248-251.DOI:10.2337/dc11-1469.

备注/Memo

备注/Memo:
通信作者:汪治华,Email:xasetyy@126.com
更新日期/Last Update: 2024-03-20