青少年起病的成人型糖尿病研究进展

doi:10.7499/j.issn.1008-8830.2408070

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摘要青少年起病的成人型糖尿病（maturity-onset diabetes of the young, MODY）是一类特殊类型糖尿病，临床特征包括糖尿病发病年龄早（30岁以前）、常染色体显性遗传、葡萄糖诱导的胰岛素分泌受损和高血糖。迄今已报道有14种MODY类型，占糖尿病患者人数的1%~5%。MODY发病常常较为隐匿，尽管已经确定了14种亚型，但由于临床特征的重叠、基因检测的高成本和有限性，MODY经常被误诊为1型或2型糖尿病。该综述的主要目的是研究MODY亚型的临床特征，以提高MODY诊疗的准确率。

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	耿荟云
	汪治华

关键词 ：青少年起病的成人型糖尿病, 基因突变, 临床表现, 治疗

Abstract：Maturity-onset diabetes of the young (MODY) is a special type of diabetes characterized by clinical features including early onset of diabetes (before 30 years of age), autosomal dominant inheritance, impaired glucose-induced insulin secretion, and hyperglycemia. So far, 14 types of MODY have been reported, accounting for about 1%-5% of the patients with diabetes. MODY often presents with an insidious onset, and although 14 subtypes have been identified for MODY, it is frequently misdiagnosed as type 1 or type 2 diabetes due to overlapping clinical features and high costs and limitations of genetic testing. This article reviews the clinical features of MODY subtypes in order to improve the accuracy of the diagnosis and treatment of MODY.

Key words： Maturity-onset diabetes of the young Gene mutation Clinical manifestation Treatment

收稿日期: 2024-08-14

通讯作者: 汪治华，男，主任医师。Email：xasetyy@126.com。 E-mail: xasetyy@126.com

作者简介: 耿荟云，女，硕士研究生；

引用本文:

耿荟云,汪治华. 青少年起病的成人型糖尿病研究进展[J]. 中国当代儿科杂志, 2025, 27(1): 121-126.

GENG Hui-Yun,WANG Zhi-Hua. Research advances in maturity-onset diabetes of the young[J]. CJCP, 2025, 27(1): 121-126.

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	Sousa M, Rego T, Armas JB. Insights into the genetics and signaling pathways in maturity-onset diabetes of the young[J]. Int J Mol Sci, 2022, 23(21): 12910. PMID: 36361703. PMCID: PMC9658959. DOI: 10.3390/ijms232112910.
	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. PMID: 32763092. DOI: 10.1016/j.jdiacomp.2020.107640.
	Aydogan HY, Gul N, Demirci DK, et al. Precision diagnosis of maturity-onset diabetes of the young with next-generation sequencing: findings from the MODY-IST study in adult patients[J]. OMICS, 2022, 26(4): 218-235. PMID: 35333605. DOI: 10.1089/omi.2022.0006.
	Fu J, Ping F, Wang T, et al. A clinical prediction model to distinguish maturity-onset diabetes of the young from type 1 and type 2 diabetes in the Chinese population[J]. Endocr Pract, 2021, 27(8): 776-782. PMID: 33991656. DOI: 10.1016/j.eprac.2021.05.002.
	Urakami T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment[J]. Diabetes Metab Syndr Obes, 2019, 12: 1047-1056. PMID: 31360071. PMCID: PMC6625604. DOI: 10.2147/DMSO.S179793.
	Kant R, Davis A, Verma V. Maturity-onset diabetes of the young: rapid evidence review[J]. Am Fam Physician, 2022, 105(2): 162-167. PMID: 35166506.
	Oliveira SC, Neves JS, Pérez A, et al. Maturity-onset diabetes of the young: from a molecular basis perspective toward the clinical phenotype and proper management[J]. Endocrinol Diabetes Nutr (Engl Ed), 2020, 67(2): 137-147. PMID: 31718996. DOI: 10.1016/j.endinu.2019.07.012.
	Skoczek D, Dulak J, Kachamakova-Trojanowska N. Maturity onset diabetes of the young: new approaches for disease modelling[J]. Int J Mol Sci, 2021, 22(14): 7553. PMID: 34299172. PMCID: PMC8303136. DOI: 10.3390/ijms22147553.
	9 徐勇, 胡承, 杨涛, 等. 青少年起病的成人型糖尿病筛查与诊治专家共识[J]. 中华糖尿病杂志, 2022, 14(5): 423-432. DOI: 10.3760/cma.j.cn115791-20220211-00073.
	Younis H, Ha SE, Jorgensen BG, et al. Maturity-onset diabetes of the young: mutations, physiological consequences, and treatment options[J]. J Pers Med, 2022, 12(11): 1762. PMID: 36573710. PMCID: PMC9697644. DOI: 10.3390/jpm12111762.
	Menon S, Refaey A, Guffey D, et al. Optimizing maturity-onset diabetes of the young detection in a pediatric diabetes population[J]. Pediatr Diabetes, 2022, 23(4): 447-456. PMID: 35218126. DOI: 10.1111/pedi.13329.
	Liang H, Zhang Y, Li M, et al. Recognition of maturity-onset diabetes of the young in China[J]. J Diabetes Investig, 2021, 12(4): 501-509. PMID: 32741144. PMCID: PMC8015824. DOI: 10.1111/jdi.13378.
	13 章钟允, 张娟, 李丹洁, 等. 2011—2021年基于文献的中国特殊类型糖尿病分布特征分析[J]. 中华内分泌代谢杂志, 2023, 39(4): 336-344. DOI: 10.3760/cma.j.cn311282-20220723-00444.
	Nkonge KM, Nkonge DK, Nkonge TN. The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)[J]. Clin Diabetes Endocrinol, 2020, 6(1): 20. PMID: 33292863. PMCID: PMC7640483. DOI: 10.1186/s40842-020-00112-5.
	Tosur M, Philipson LH. Precision diabetes: lessons learned from maturity-onset diabetes of the young (MODY)[J]. J Diabetes Investig, 2022, 13(9): 1465-1471. PMID: 35638342. PMCID: PMC9434589. DOI: 10.1111/jdi.13860.
	Jang KM. Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment[J]. Yeungnam Univ J Med, 2020, 37(1): 13-21. PMID: 31914718. PMCID: PMC6986955. DOI: 10.12701/yujm.2019.00409.
	Hulín J, ?kopková M, Valkovi?ová T, et al. Clinical implications of the glucokinase impaired function: GCK MODY today[J]. Physiol Res, 2020, 69(6): 995-1011. PMID: 33129248. PMCID: PMC8549873. DOI: 10.33549/physiolres.934487.
	18 周知子, 李秀珍, 徐爱晶, 等. 青少年发病的成人型糖尿病2型的临床与分子遗传学研究[J]. 实用医学杂志, 2022, 38(14): 1725-1730. DOI: 10.3969/j.issn.1006-5725.2022.14.003.
	Ze?evi? K, Vol?an?ek ?, Katsiki N, et al. Maturity-onset diabetes of the young (MODY): in search of ideal diagnostic criteria and precise treatment[J]. Prog Cardiovasc Dis, 2024, 85: 14-25. PMID: 38513726. DOI: 10.1016/j.pcad.2024.03.004.
	Majewska A, Stanirowski P, Wielgo? M, et al. Maturity-onset diabetes of the young (MODY) in pregnancy: a review[J]. Curr Diabetes Rev, 2023, 19(1): e280122200657. PMID: 35088675. DOI: 10.2174/1573399818666220128124043.
	Takase K, Yokota H, Ohno A, et al. A pilot study of diabetic retinopathy in a porcine model of maturity onset diabetes of the young type 3 (MODY3)[J]. Exp Eye Res, 2023, 227: 109379. PMID: 36608813. DOI: 10.1016/j.exer.2022.109379.
	Ebrahim N, Shakirova K, Dashinimaev E. PDX1 is the cornerstone of pancreatic β-cell functions and identity[J]. Front Mol Biosci, 2022, 9: 1091757. PMID: 36589234. PMCID: PMC9798421. DOI: 10.3389/fmolb.2022.1091757.
	Quilichini E, Fabre M, Nord C, et al. Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease[J]. J Pathol, 2021, 254(1): 31-45. PMID: 33527355. PMCID: PMC8251562. DOI: 10.1002/path.5629.
	Amaral S, Palha A, Bogalho P, et al. Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center[J]. Diabetol Metab Syndr, 2023, 15(1): 21. PMID: 36793123. PMCID: PMC9930356. DOI: 10.1186/s13098-022-00964-0.
	Sztromwasser P, Michalak A, Ma?achowska B, et al. A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes[J]. Pediatr Diabetes, 2020, 21(3): 422-430. PMID: 31825128. PMCID: PMC7217165. DOI: 10.1111/pedi.12959.
	Horikawa Y, Enya M. Genetic dissection and clinical features of MODY6 (NEUROD1-MODY)[J]. Curr Diab Rep, 2019, 19(3): 12. PMID: 30793219. DOI: 10.1007/s11892-019-1130-9.
	Guan G, Qin T, Zhao LL, et al. Genetic and functional analyses of the novel KLF11 Pro193Thr variant in a three-generation family with MODY7[J]. Horm Metab Res, 2023, 55(2): 136-141. PMID: 36241199. DOI: 10.1055/a-1961-6281.
	Mancera-Rincón P, Luna-Espa?a MC, Rincon O, et al. Maturity-onset diabetes of the young type 7 (MODY7) and the Krüppellike factor 11 mutation (KLF11). A review[J]. Curr Diabetes Rev, 2024, 20(1): e210323214817. PMID: 36944622. DOI: 10.2174/1573399819666230321114456.
	Johansson BB, Fjeld K, El Jellas K, et al. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease[J]. Pancreatology, 2018, 18(1): 12-19. PMID: 29233499. DOI: 10.1016/j.pan.2017.12.001.
	Ko J, Fonseca VA, Wu H. Pax4 in health and diabetes[J]. Int J Mol Sci, 2023, 24(9): 8283. PMID: 37175989. PMCID: PMC10179455. DOI: 10.3390/ijms24098283.
	Zhang D, Chen C, Yang W, et al. C.487C>T mutation in PAX4 gene causes MODY9: a case report and literature review[J]. Medicine (Baltimore), 2022, 101(51): e32461. PMID: 36595822. PMCID: PMC9794226. DOI: 10.1097/MD.0000000000032461.
	Pérez López P, Bahillo Curieses P, Fernández P, et al. Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene[J]. Endocrinol Diabetes Nutr (Engl Ed), 2024, 71(2): 77-82. PMID: 38553172. DOI: 10.1016/j.endien.2024.03.006.
	Marassi M, Morieri ML, Sanga V, et al. The elusive nature of ABCC8-related maturity-onset diabetes of the young (ABCC8-MODY). A review of the literature and case discussion[J]. Curr Diab Rep, 2024, 24(9): 197-206. PMID: 38980630. PMCID: PMC11303576. DOI: 10.1007/s11892-024-01547-1.
	34 刘笑孝, 马士凤, 褚亚男, 等. ABCC8突变致年轻的成年发病型糖尿病12亚型二例报道[J]. 中国糖尿病杂志, 2023, 31(6): 451-455. DOI: 10.3969/j.issn.1006-6187.2023.06.009.
	Reilly F, Sanchez-Lechuga B, Clinton S, et al. Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC8 gene: response to appropriate therapy[J]. Diabet Med, 2020, 37(5): 876-884. PMID: 31562829. DOI: 10.1111/dme.14145.
	Chen Y, Hu X, Zhao M. Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: a systematic review of the literature[J]. J Diabetes, 2024, 16(3): e13520. PMID: 38095268. PMCID: PMC10925878. DOI: 10.1111/1753-0407.13520.
	Ivanoshchuk DE, Shakhtshneider EV, Rymar OD, et al. Analysis of APPL1 gene polymorphisms in patients with a phenotype of maturity onset diabetes of the young[J]. J Pers Med, 2020, 10(3): 100. PMID: 32854233. PMCID: PMC7565648. DOI: 10.3390/jpm10030100.
	38 刘丽芳, 张芬. 以酮症酸中毒起病的青少年成年型糖尿病6型1例[J]. 中国医药科学, 2024, 14(12): 195-198. DOI: 10.20116/j.issn2095-0616.2024.12.47.
	39 李雅洁, 王知笑, 陈诗颖, 等. KCNJ11基因突变所致青少年起病的成人型糖尿病13型一例[J]. 临床内科杂志, 2024, 41(8): 572-573. DOI: 10.3969/j.issn.1001-9057.2024.08.019.
	Chen Y, Zhao J, Li X, et al. Prevalence of maturity-onset diabetes of the young in phenotypic type 2 diabetes in young adults: a nationwide, multi-center, cross-sectional survey in China[J]. Chin Med J (Engl), 2023, 136(1): 56-64. PMID: 36723869. PMCID: PMC10106210. DOI: 10.1097/CM9.0000000000002321.
	Karaoglan M, Nacarkahya G. Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis[J]. J Diabetes, 2021, 13(2): 154-163. PMID: 32710514. DOI: 10.1111/1753-0407.13097.
	Diren A, Demirci DK, Gul N, et al. Cytokine profile in patients with maturity-onset diabetes of the young (MODY)[J]. In Vivo, 2022, 36(5): 2490-2504. PMID: 36099138. PMCID: PMC9463932. DOI: 10.21873/invivo.12985.
	Liu J, Fu J, Xie Z, et al. Serum metabolomics identified metabolite biomarkers and distinguished maturity-onset diabetes of the young from type 1 diabetes in the Chinese population[J]. Clin Chim Acta, 2023, 539: 250-258. PMID: 36584766. DOI: 10.1016/j.cca.2022.12.019.
	44 吴浩雯, 顾天伟, 毕艳. 青少年起病的成人型糖尿病的治疗进展[J]. 临床内科杂志, 2024, 41(8): 515-518. DOI: 10.3969/j.issn.1001-9057.2024.08.003.
	Bonnefond A, Unnikrishnan R, Doria A, et al. Monogenic diabetes[J]. Nat Rev Dis Primers, 2023, 9(1): 12. PMID: 36894549. DOI: 10.1038/s41572-023-00421-w.
	Auble B, Dey J. Monogenetic etiologies of diabetes[J]. Med Clin North Am, 2024, 108(1): 15-26. PMID: 37951647. DOI: 10.1016/j.mcna.2023.05.013.