青少年起病的成人型糖尿病的临床特点分析
Analysis of the Clinical Characteristics of the Maturity Onset Diabetes of the Young
DOI: 10.12677/acm.2025.1551549, PDF,   
作者: 杨 鹏, 李 敏*：齐齐哈尔医学院附属第三医院内分泌科，黑龙江 齐齐哈尔
关键词: 青少年起病的成人型糖尿病；单基因糖尿病；发病机制；Maturity-Onset Diabetes of the Young； Monogenic Diabetes； Pathogenesis
摘要: 青少年起病的成人型糖尿病(Maturity-Onset Diabetes of the Young, MODY)是一组遗传异质性很高的单基因糖尿病类型，约占所有糖尿病患者的1%~5%，常常起病隐匿，其临床特点和治疗策略与常见的1型和2型糖尿病均有所不同。至今已确定14个MODY致病基因，根据不同致病基因分为14个亚型，不同的亚型的临床特点和治疗方法也不尽相同，早期识别和治疗有助于患者控制血糖，提高生活质量，并减少并发症的风险。本文综述国内外4种常见MODY亚型的发病机制、临床特征及治疗策略，以提升临床对MODY的早期识别能力，推动基因检测指导下的精准诊疗。
Abstract: Maturity-onset diabetes of the young (MODY), a group of monogenic diabetes types with high genetic heterogeneity, accounts for approximately 1% to 5% of all diabetes patients. It often has an insidious onset, and its clinical features and treatment strategies are different from those of common type 1 and type 2 diabetes. So far, 14 MODY pathogenic genes have been identified, and they are classified into 14 subtypes based on different pathogenic genes. The clinical features and treatment methods of different subtypes are also not the same. Early identification and treatment can help patients control blood sugar, improve their quality of life, and reduce the risk of complications. This article reviews the pathogenesis, clinical features, and treatment strategies of four common MODY subtypes at home and abroad to enhance the early recognition ability of MODY in clinical practice and promote precise diagnosis and treatment guided by genetic testing.
文章引用：杨鹏, 李敏. 青少年起病的成人型糖尿病的临床特点分析[J]. 临床医学进展, 2025, 15(5): 1723-1728. https://doi.org/10.12677/acm.2025.1551549

参考文献

[1] 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.
[2] Chandran, S., Rajadurai, V.S., Hoi, W.H., Flanagan, S.E., Hussain, K. and Yap, F. (2020) A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family. Frontiers in Pediatrics, 8, Article 320. [Google Scholar] [CrossRef] [PubMed]
[3] Sousa, M., Rego, T. and Bruges Armas, J. (2022) Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young. International Journal of Molecular Sciences, 23, Article 12910.
[4] 中国医师协会内分泌代谢科医师分会国家代谢性疾病临床医学研究中心. 糖尿病分型诊断中国专家共识[J]. 中华糖尿病杂志, 2022, 14(2): 120-139.
[5] 蓝青, 张巧云, 李居怡, 等. 单基因糖尿病的分类、诊断与治疗新进展[J]. 解放军医学杂志, 2023, 48(7): 841-850.
[6] Calcaterra, V., Zanfardino, A., Zuccotti, G.V. and Iafusco, D. (2020) Maternal or Paternal Diabetes and Its Crucial Role in Offspring Birth Weight and MODY Diagnosis. Metabolites, 10, Article 387. [Google Scholar] [CrossRef] [PubMed]
[7] 张巧云, 李居怡, 张又枝. 青少年成年起病型糖尿病的流行现状与精准治疗[J]. 医药导报, 2022, 41(1): 86-91.
[8] Kuo, T., Du, W., Miyachi, Y., Dadi, P.K., Jacobson, D.A., Segrè, D., et al. (2021) Antagonistic Epistasis of Hnf4α and FoxO1 Metabolic Networks through Enhancer Interactions in β-Cell Function. Molecular Metabolism, 53, Article ID: 101256. [Google Scholar] [CrossRef] [PubMed]
[9] Karaoglan, M. and Nacarkahya, G. (2020) Clinical and Laboratory Clues of Maturity‐Onset Diabetes of the Young and Determination of Association with Molecular Diagnosis. Journal of Diabetes, 13, 154-163. [Google Scholar] [CrossRef] [PubMed]
[10] Nkonge, K.M., Nkonge, D.K. and Nkonge, T.N. (2020) The Epidemiology, Molecular Pathogenesis, Diagnosis, and Treatment of Maturity-Onset Diabetes of the Young (MODY). Clinical Diabetes and Endocrinology, 6, Article No. 20. [Google Scholar] [CrossRef] [PubMed]
[11] Delvecchio, M., Pastore, C. and Giordano, P. (2020) Treatment Options for MODY Patients: A Systematic Review of Literature. Diabetes Therapy, 11, 1667-1685. [Google Scholar] [CrossRef] [PubMed]
[12] Alvelos, M.I., Gonçalves, C.I., Coutinho, E., Almeida, J.T., Bastos, M., Sampaio, M.L., et al. (2020) Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations. Journal of Clinical Medicine, 9, Article 288. [Google Scholar] [CrossRef] [PubMed]
[13] Aarthy, R., Aston-Mourney, K., Mikocka-Walus, A., Radha, V., Amutha, A., Anjana, R.M., et al. (2021) Clinical Features, Complications and Treatment of Rarer Forms of Maturity-Onset Diabetes of the Young (MODY)—A Review. Journal of Diabetes and its Complications, 35, Article ID: 107640. [Google Scholar] [CrossRef] [PubMed]
[14] Broome, D.T., Tekin, Z., Pantalone, K.M. and Mehta, A.E. (2020) Novel Use of GLP-1 Receptor Agonist Therapy in Hnf4a-mody. Diabetes Care, 43, e65-e65. [Google Scholar] [CrossRef] [PubMed]
[15] Sreelekshmi, M. and Raghu, K.G. (2021) Vanillic Acid Mitigates the Impairments in Glucose Metabolism in HepG2 Cells through BAD-GK Interaction during Hyperinsulinemia. Journal of Biochemical and Molecular Toxicology, 35, 1-8. [Google Scholar] [CrossRef] [PubMed]
[16] Fu, J., Wang, T., Liu, J., Wang, X., Li, M. and Xiao, X. (2019) Birthweight Correlates with Later Metabolic Abnormalities in Chinese Patients with Maturity-Onset Diabetes of the Young Type 2. Endocrine, 65, 53-60. [Google Scholar] [CrossRef] [PubMed]
[17] Cho, J., Horikawa, Y., Enya, M., Takeda, J., Imai, Y., Imai, Y., et al. (2020) L-Arginine Prevents Cereblon-Mediated Ubiquitination of Glucokinase and Stimulates Glucose-6-Phosphate Production in Pancreatic β-Cells. Communications Biology, 3, Article No. 497. [Google Scholar] [CrossRef] [PubMed]
[18] Xu, A., Lin, Y., Sheng, H., Cheng, J., Mei, H., Ting, T.H., et al. (2020) Molecular Diagnosis of Maturity‐Onset Diabetes of the Young in a Cohort of Chinese Children. Pediatric Diabetes, 21, 431-440. [Google Scholar] [CrossRef] [PubMed]
[19] Delvecchio, M., Salzano, G., Bonura, C., Cauvin, V., Cherubini, V., d’Annunzio, G., et al. (2018) Can HbA1c Combined with Fasting Plasma Glucose Help to Assess Priority for GCK-MODY vs HNF1A-MODY Genetic Testing? Acta Diabetologica, 55, 981-983. [Google Scholar] [CrossRef] [PubMed]
[20] Poon, K., Tan, K.M., Koay, E.S. and Sng, A. (2020) Genetic Testing of GCK-MODY Identifies a Novel Pathogenic Variant in a Chinese Boy with Early Onset Hyperglycemia. Human Genome Variation, 7, Article No. 7. [Google Scholar] [CrossRef] [PubMed]
[21] Romuld, I.B., Kalleklev, T., Molnes, J., Juliusson, P.B., Njølstad, P.R. and Sagen, J.V. (2021) Impact of Overweight on Glucose Homeostasis in MODY2 and Mody3. Diabetic Medicine, 38, e14649. [Google Scholar] [CrossRef] [PubMed]
[22] Elias-Assad, G., Saab, R., Molnes, J., Hess, O., Abu-Ras, R., Darawshi, H., et al. (2021) Maturity Onset Diabetes of the Young Type 2 (MODY2): Insight from an Extended Family. Diabetes Research and Clinical Practice, 175, Article ID: 108791. [Google Scholar] [CrossRef] [PubMed]
[23] Valkovicova, T., Skopkova, M., Stanik, J. and Gasperikova, D. (2019) Novel Insights into Genetics and Clinics of the HNF1A-MODY. Endocrine Regulations, 53, 110-134. [Google Scholar] [CrossRef] [PubMed]
[24] 束燕雯. 青少年起病的成人型糖尿病(MODY)患者临床特征分析[D]: [硕士学位论文]. 北京: 北京协和医学院, 2021.
[25] Owen, K.R., Thanabalasingham, G., James, T.J., Karpe, F., Farmer, A.J., McCarthy, M.I., et al. (2010) Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations. Diabetes Care, 33, 1919-1924. [Google Scholar] [CrossRef] [PubMed]
[26] Torell, F., Bennett, K., Cereghini, S., Fabre, M., Rännar, S., Lundstedt-Enkel, K., et al. (2018) Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. Journal of Proteome Research, 17, 2293-2306. [Google Scholar] [CrossRef] [PubMed]
[27] Bustamante, C., Sanchez, J., Seeherunvong, T. and Ukarapong, S. (2020) Early Onset of Mody5 Due to Haploinsufficiency of Hnf1b. AACE Clinical Case Reports, 6, e243-e246. [Google Scholar] [CrossRef] [PubMed]
[28] Kamath, A., Linden, S.C., Evans, F.M., Hall, J., Jose, S.F., Spillane, S.A., et al. (2018) Chromosome 17q12 Duplications: Further Delineation of the Range of Psychiatric and Clinical Phenotypes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177, 520-528. [Google Scholar] [CrossRef] [PubMed]
[29] Ren, B., Chen, Y., Zhang, Q., Chen, S., Zhang, S., Wang, J., et al. (2021) De Novo Mutation in HNF-1β Gene as a Cause for Maturity-Onset Diabetes of the Young Type 5 with Sustained Hypomagnesemia. International Journal of Diabetes in Developing Countries, 41, 354-357. [Google Scholar] [CrossRef] 

为你推荐