[1]柴晓峰 刘懿萱 马池发 许岭翎.HNF4α c.98del杂合突变导致青少年起病的成人型糖尿病病例报道暨文献复习[J].国际内分泌代谢杂志,2021,41(05):472-474.[doi:10.3760/cma.j.cn121383-20210715-07041]
 Chai Xiaofeng,Liu Yixuan,Ma Chifa,et al.One case of maturity-onset diabetes of the young caused by heterozygous mutation of HNF4α c.98del and literature review[J].International Journal of Endocrinology and Metabolism,2021,41(05):472-474.[doi:10.3760/cma.j.cn121383-20210715-07041]
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HNF4α c.98del杂合突变导致青少年起病的成人型糖尿病病例报道暨文献复习()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年05期
页码:
472-474
栏目:
病例报告
出版日期:
2021-09-30

文章信息/Info

Title:
One case of maturity-onset diabetes of the young caused by heterozygous mutation of HNF4α c.98del and literature review
作者:
柴晓峰 刘懿萱 马池发 许岭翎
中国医学科学院,北京协和医学院,北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室 100730
Author(s):
Chai Xiaofeng Liu Yixuan Ma Chifa Xu Lingling.
The Chinese Academy of Medical Sciences, Peking Union Medical College, Department of Endocrinology, Peking Union Medical College Hospital, Key Laboratory of Endocrinology, National Health Commission, Beijing 100730, China
DOI:
10.3760/cma.j.cn121383-20210715-07041

参考文献/References:

[1] Vionnet N,Stoffel M,Takeda J,et al.Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus[J].Nature,1992,356(6371):721-722.DOI:10.1038/356721a0.
[2] Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J].Genet Med,2015,17(5):405-424.DOI:10.1038/gim.2015.30.
[3] Malecki MT,Mlynarski W,Skupien J.Can geneticists help clinicians to understand and treat non-autoimmune diabetes?[J].Diabetes Res Clin Pract,2008,82 Suppl 2:S83-93.DOI:10.1016/j.diabres.2008.09.020.
[4] Pearson ER,Starkey BJ,Powell RJ,et al.Genetic cause of hyperglycaemia and response to treatment in diabetes[J].Lancet,2003,362(9392):1275-1281.DOI:10.1016/S0140-6736(03)14571-0.
[5] Chambers C,Fouts A,Dong F,et al.Characteristics of maturity onset diabetes of the young in a large diabetes center[J].Pediatr Diabetes,2016,17(5):360-367.DOI:10.1111/pedi.12289.Epub 2015 Jun 8.
[6] Majidi S,Fouts A,Pyle L,et al.Can biomarkers help target maturity-onset diabetes of the young genetic testing in antibody-negative diabetes?[J].Diabetes Technol Ther,2018,20(2):106-112.DOI:10.1089/dia.2017.0317.
[7] Dos Santos TJ,Passone CGB,Ybarra M,et al.Pitfalls in the diagnosis of insulin autoimmune syndrome(Hirata's disease)in a hypoglycemic child:a case report and review of the literature[J].J Pediatr Endocrinol Metab,2019,32(4):421-428.DOI:10.1515/jpem-2018-0441.
[8] Kobayashi S,Amano H,Kawaguchi Y,et al.A novel treatment of hyperinsulinemic hypoglycemia induced by insulin antibodies with alkali administration:a case report[J].J Med Case Rep,2019,13(1):79.DOI:10.1186/s13256-019-1989-8.
[9] Shields BM,Shepherd M,Hudson M,et al.Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients[J].Diabetes Care,2017,40(8):1017-1025.DOI:10.2337/dc17-0224.
[10] Owen KR.Monogenic diabetes:old and new approaches to diagnosis[J].Clin Med(Lond),2013,13(3):278-281.DOI:10.7861/clinmedicine.13-3-278.
[11] Hamilton AJ,Bingham C,McDonald TJ,et al.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype[J].J Med Genet,2014,51(3):165-169.DOI:10.1136/jmedgenet-2013-102066.
[12] McDonald TJ,Ellard S.Maturity onset diabetes of the young:identification and diagnosis[J].Ann Clin Bidchem,2013,50(pt 5):403-415.DOI:10.1177/0004563213483458.

备注/Memo

备注/Memo:
通信作者:许岭翎,Email:llxuwsh@163.com
更新日期/Last Update: 2021-10-10