参考文献/References:
[1] 王彤,肖新华.儿童和青少年单基因糖尿病的临床诊治[J].中国糖尿病杂志,2016,8(6):324-328.DOI:10.3760/cma.j.issn.1674-5809.2016.06.002.
[2] Thanabalasingham G, Pal A,Selwood MP,et al. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young[J].Diabetes Care,2012,35(6):1206-1212.DOI:10.2337/dc11-1243.
[3] Hattersley AT,Patel KA.Precision diabetes:learning from monogenic diabetes[J].Diabetologia,2017,60(5):769-777.DOI:10.1007/s00125-017-4226-2.
[4] Iafusco D,Massa O,Pasquino B,et al.Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 livebirths[J].Acta Diabetol,2012,49(5):405-408.DOI:10.1007/s00592-011-0331-8.
[5] De Franco E, Flanagan SE,Houghton JA,et al.The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study[J].Lancet,2015,386(9997):957-963. DOI:10.1016/S0140-6736(15)60098-8.
[6] Demirbilek H,Arya VB,Ozbek MN,et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations[J].Eur J Endocrinol,2015,172(6):697-705.DOI:10.1530/EJE-14-0852.
[7] Proks P,de Wet H,Ashcroft FM.Molecular mechanism of sulphonylurea block of K(ATP)channels carrying mutations that impair ATP inhibition and cause neonatal diabetes[J].Diabetes,2013,62(11):3909-3919.DOI:10.2337/db13-0531.
[8] 巩纯秀,曹冰燕.新生儿糖尿病分子遗传学机制研究进展[J].中华实用儿科临床杂志,2015,30(20):1521-1524.DOI:10.3760/cma.j.issn.2095-428X.2015.20.001.
[9] Beltrand J,Elie C,Busiah K,et al.Sulfonylurea therapy benefits neurological and psychomotor functions in patients with neonatal diabetes owing to potassium channel mutations[J].Diabetes Care,2015,38(11):2033-2041.DOI:10.2337/dc15-0837.
[10] Poolsup N,Suksomboon N, Amin M. Efficacy and safety of oral antidiabetic drugs in comparison to insulin in treating gestational diabetes mellitus: a meta-analysis[J].PLoS One, 2014,9(10): e109985.DOI:10.1371/journal.pone.0109985.
[11] Gaal Z,Klupa T,Kantor I,et al.Sulfonylurea use during entire pregnancy in diabetes because of KCNJ11 mutation: a report of two cases[J].Diabetes Care,2012,35(6):e40.DOI:10.2337/dc12-0163.
[12] Shepherd M,Brook AJ,Chakera AJ,et al.Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer[J].Diabet Med,2017,34(10):1332-1339.DOI:10.1111/dme.13388.
[13] 翁建平.中国单基因糖尿病的研究现状与展望:机遇与挑战,传承与创新[J].中国糖尿病杂志,2014,6(1):1-4.DOI: 10.3760/cma.j.issn.1674-5809.2014.01.001.
[14] Zhang M,Chen X,Shen S,et al. Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds[J].J Pediatr Endocrinol Metab,2015,28(7-8):877-884. DOI:10.1515/jpem-2014-0429.
[15] 刘丽梅,贾伟平.“病因选择治疗”:青少年的成人起病型糖尿病开启糖尿病精准医疗时代[J].中国糖尿病杂志,2016,8(6):329-332.DOI:10.3760/cma.j.issn.1674-5809.2016.06.003.
[16] An|k A, Çatl G, Abac|A, et al.Maturity-onset diabetes of the young(MODY): an update[J].J Pediatr Endocrinol Metab,2015,28(3-4):251-263.DOI:10.1515/jpem-2014-0384.
[17] Vaxillaire M,Froguel P.Monogenic diabetes: implementation of translational genomic research towards precision medicine[J].J Diabetes,2016,8(6):782-795. DOI:10.1111/1753-0407.12446.
[18] 周庆菊,李蓉.MODY2的认识及诊疗进展[J].国际内分泌代谢杂志,2016,36(3):180-183. DOI:10.3760/cma.j.issn.1673-4157.2016.03.09.
[19] 王彤, 肖新华. 青少年发病的成人型糖尿病[J].中国实用儿科杂志,2015,30(10):757-761.DOI:10.7504/ek2015100610.
[20] Stride A,Shields B,Gill-Carey O,et al.Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia[J].Diabetologia,2014,57(1):54-56.DOI:10.1007/s00125-013-3075-x.
[21] Laver TW,Colclough K, Shepherd M,et al.The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes[J].Diabetes,2016,65(10):3212-3217.DOI:10.2337/db16-0628.
[22] Spégel P,Ekholm E,Tuomi T,et al.Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene(MODY2)[J].Diabetes,2013,62(2):653-661.DOI:10.2337/db12-0827.
相似文献/References:
[1]舒画,杨迎,李新,等.从糖尿病分型的演变看单基因糖尿病个体化精准诊疗及其科研价值[J].国际内分泌代谢杂志,2021,41(05):413.[doi:10.3760/cma.j.cn121383-20210915-09041]
Shu Hua,Yang Ying,Li Xin,et al.The lesson from evolution of diabetes classification to individualized precision medicine of monogenic diabetes[J].International Journal of Endocrinology and Metabolism,2021,41(03):413.[doi:10.3760/cma.j.cn121383-20210915-09041]
[2]欧杨,周怡昆.青少年发病的成人型糖尿病的妊娠期管理[J].国际内分泌代谢杂志,2021,41(05):422.[doi:10.3760/cma.j.cn121383-20210622-06062]
Ou Yang,Zhou Yikun..Gestational management of maturity-onset diabetes of the young[J].International Journal of Endocrinology and Metabolism,2021,41(03):422.[doi:10.3760/cma.j.cn121383-20210622-06062]