病史和体格检查
关键诊断因素
其他诊断因素
通常在儿童或者青少年发病,典型的发病年龄为 5-15 岁。
不同的研究提示发病年龄不同。在小于5岁的儿童中发病率增加。[36]Karvonen M, Pitkäniemi J, Tuomilehto J. The onset age of type 1 diabetes in Finnish children has become younger. The Finnish Childhood Diabetes Registry Group. Diabetes Care. 1999 Jul;22(7):1066-70. http://www.ncbi.nlm.nih.gov/pubmed/10388969?tool=bestpractice.com
起病时就可有体重减轻。
在夜间或者血糖波动时发生。
提示糖尿病酮症酸中毒。
提示糖尿病酮症酸中毒。
提示糖尿病酮症酸中毒。
提示糖尿病酮症酸中毒。
提示糖尿病酮症酸中毒。
危险因素
已经发现与1型糖尿病相关的人白细胞抗原(HLA)越来越多,提示环境因素影响着遗传易感性基因型。[32]Gillespie KM, Bain SC, Barnett AH, et al. The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes. Lancet. 2004 Nov 6-12;364(9446):1699-700. http://www.ncbi.nlm.nih.gov/pubmed/15530631?tool=bestpractice.com
地理区域造成的发生率的差异从中国的1/100,000到芬兰的38/100,000不等。[7]Onkamo P, Väänänen S, Karvonen M, et al. Worldwide increase in incidence of type I diabetes - the analysis of the data on published incidence trends. Diabetologia. 1999 Dec;42(12):1395-403. https://link.springer.com/content/pdf/10.1007%2Fs001250051309.pdf http://www.ncbi.nlm.nih.gov/pubmed/10651256?tool=bestpractice.com 地域差异提示不同的致病风险暴露。[10]Patterson CC, Gyürüs E, Rosenbauer J, et al. Trends in childhood type 1 diabetes incidence in Europe during 1989-2008: evidence of non-uniformity over time in rates of increase. Diabetologia. 2012 May 26;55(8):2142-7. https://link.springer.com/article/10.1007%2Fs00125-012-2571-8 http://www.ncbi.nlm.nih.gov/pubmed/22638547?tool=bestpractice.com
在一项研究中,在单卵双胎中,1 型糖尿病的一致率为 27.3%,在双卵性双胎中为 3.8%。[30]Hyttinen V, Kaprio J, Kinnunen L, et al. Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: a nationwide follow-up study. Diabetes. 2003 Apr;52(4):1052-5. http://diabetes.diabetesjournals.org/content/52/4/1052.full http://www.ncbi.nlm.nih.gov/pubmed/12663480?tool=bestpractice.com
已经发现第6对染色体上HLA等位点参与了1型糖尿病的家族遗传机制。[31]Gillespie K. Type 1 diabetes: pathogenesis and prevention. CMAJ. 2006 Jul 18;175(2):165-70. http://www.cmaj.ca/content/175/2/165.long http://www.ncbi.nlm.nih.gov/pubmed/16847277?tool=bestpractice.com
DR4-DQ8和DR3-DQ2位点被认为是易感基因,在1型糖尿病中90%的患儿存在这两个基因。[31]Gillespie K. Type 1 diabetes: pathogenesis and prevention. CMAJ. 2006 Jul 18;175(2):165-70. http://www.cmaj.ca/content/175/2/165.long http://www.ncbi.nlm.nih.gov/pubmed/16847277?tool=bestpractice.com
DR15-DQ6被认为有保护性。[31]Gillespie K. Type 1 diabetes: pathogenesis and prevention. CMAJ. 2006 Jul 18;175(2):165-70. http://www.cmaj.ca/content/175/2/165.long http://www.ncbi.nlm.nih.gov/pubmed/16847277?tool=bestpractice.com
第11对染色体的胰岛素基因被认为是第二个非常重要的易感基因,占到了遗传易感性的10%。[31]Gillespie K. Type 1 diabetes: pathogenesis and prevention. CMAJ. 2006 Jul 18;175(2):165-70. http://www.cmaj.ca/content/175/2/165.long http://www.ncbi.nlm.nih.gov/pubmed/16847277?tool=bestpractice.com
还有些基因位点与1型糖尿病相关。[31]Gillespie K. Type 1 diabetes: pathogenesis and prevention. CMAJ. 2006 Jul 18;175(2):165-70. http://www.cmaj.ca/content/175/2/165.long http://www.ncbi.nlm.nih.gov/pubmed/16847277?tool=bestpractice.com
目前最强有力的证据支持人肠道病毒与该疾病有关。[15]Hyöty H. Viruses in type 1 diabetes. Pediatr Diabetes. 2016 Jul;17 Suppl 22:56-64. http://www.ncbi.nlm.nih.gov/pubmed/27411438?tool=bestpractice.com [16]Devendra D, Liu E, Eisenbarth GS. Type 1 diabetes: recent developments. BMJ. 2004 Mar 27;328(7442):750-4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC381328/ http://www.ncbi.nlm.nih.gov/pubmed/15044291?tool=bestpractice.com [17]Hober D, Sauter P. Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. Nat Rev Endocrinol. 2010 May;6(5):279-89. http://www.ncbi.nlm.nih.gov/pubmed/20351698?tool=bestpractice.com
在饮食因素中,补充维生素 D 可能具有保护性。[18]Hypponen E, Laara E, Reunanen A, et al. Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. Lancet. 2001 Nov 3;358(9292):1500-3. http://www.ncbi.nlm.nih.gov/pubmed/11705562?tool=bestpractice.com [19]Wolden-Kirk H, Overbergh L, Christesen HT, et al. Vitamin D and diabetes: its importance for beta cell and immune function. Mol Cell Endocrinol. 2011 Aug 26;347(1-2):106-20. http://www.ncbi.nlm.nih.gov/pubmed/21889571?tool=bestpractice.com 还需要进行更多研究,以确定牛奶、早期添加谷物或者母亲维生素 D 摄入对 1 型糖尿病风险的影响。[20]Hyytinen M, Savilahti E, Virtanen SM, et al; FInnish TRIGR Pilot Study Group. Avoidance of cow's milk-based formula for at-risk infants does not reduce development of celiac disease: a randomized controlled trial. Gastroenterology. 2017 Jul 5;153(4):961-70.e3. https://www.gastrojournal.org/article/S0016-5085(17)35862-6/fulltext http://www.ncbi.nlm.nih.gov/pubmed/28687275?tool=bestpractice.com [21]Uusitalo U, Lee HS, Andrén Aronsson C, et al; TEDDY Study Group. Early infant diet and islet autoimmunity in the TEDDY Study. Diabetes Care. 2018 Jan 17;41(3):522-30. http://care.diabetesjournals.org/content/41/3/522.long http://www.ncbi.nlm.nih.gov/pubmed/29343517?tool=bestpractice.com [22]Silvis K, Aronsson CA, Liu X, et al; TEDDY Study Group. Maternal dietary supplement use and development of islet autoimmunity in the offspring: TEDDY study. Pediatr Diabetes. 2018 Dec 9;20(1):86-92. https://onlinelibrary.wiley.com/doi/full/10.1111/pedi.12794 http://www.ncbi.nlm.nih.gov/pubmed/30411443?tool=bestpractice.com 目前关于哺乳对1型糖尿病的利弊尚无统一观点。[33]Lund-Blix NA, Dydensborg Sander S, Størdal K, et al. Infant feeding and risk of type 1 diabetes in two large Scandinavian birth cohorts. Diabetes Care. 2017 May 9;40(7):920-7. http://care.diabetesjournals.org/content/40/7/920.long http://www.ncbi.nlm.nih.gov/pubmed/28487451?tool=bestpractice.com
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