Journal of Shandong University (Health Sciences) ›› 2020, Vol. 58 ›› Issue (6): 71-75.doi: 10.6040/j.issn.1671-7554.0.2019.1283

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A case report of maturity-onset diabetes of the young13

LI Lintong, HOU Xinguo, QIN Jun, LIANG Kai, REN Jianmin   

  1. Department of Endocrinology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2022-09-27

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Abstract: Objective To investigate the clinical manifestations, diagnosis and treatment of maturity-onset diabetes of the young13(MODY13). Methods One patient with MODY13 was examined after admission, and whole exome test was performed. Results Whole exome test showed that there was a mutation in potassium channel, inwardly rectifying subfamily J, member 11(KCNJ11). The treatment plan was adjusted. After glimepiride was administered, symptoms of diabetes were effectively improved. Conclusion The diagnosis of MODY13 requires genetic testing. After confirmation, medication and diet should be adjusted according to patients age to control blood glucose.

Key words: Maturity-onset diabetes of the young13, Special type of diabetes, Potassium channel, inwardly rectifying subfamily J, member 11, Diabetes, Whole exome test, Sulfonylureas

CLC Number: 

  • R587
[1] McDonald T, Ellard S. Maturity onset diabetes of the young: identification and diagnosis[J]. Ann Clin Biochem, 2013, 50(5): 403-415.
[2] Gupta MK, Vadde R. A computational structural biology study to understand the impact of mutation on structure-function relationship of inward-rectifier potassium ion channel Kir6.2 in human[J]. J Biomol Struct Dyn, 2020, 1-14. doi:10. 1080/07391102.2020.1733666.
[3] Bowman P, McDonald TJ, Knight BA, et al. Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways[J]. BMJ Open Diabetes Res Care, 2019, 7(1): e000721.
[4] Glotov OS, Serebryakova EA, Turkunova ME, et al. Whole exome sequencing in Russian children with non type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY related and unrelated genes[J]. Mol Med Rep, 2019, 20(6): 4905-4914.
[5] 张文博, 刘国良. MODY 13的研究、认识现状及处理[J]. 实用糖尿病杂志, 2017(3): 5-6. ZHANG Wenbo, LIU Guoliang. Research, Cognitive Status and Treatment of MODY 13[J]. Journal of Practical Diabetology, 2017(3): 5-6.
[6] Bonnefond A, Philippe J, Durand E, et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene[J]. PLoS One, 2012, 7(6): e37423.
[7] Siddiqui K, Musambil M, Nazir N. Maturity onset diabetes of the young(MODY)—history, first case reports and recent advances[J]. Gene, 2015, 555(1): 66-71.
[8] Ashcroft FM, Gribble FM. ATP-sensitive K+ channels and insulin secretion: their role in health and disease[J]. Diabetologia, 1999, 42(8): 903-919.
[9] Petersmann A, Müller-Wieland D, Müller UA, et al. Definition, classification and diagnosis of diabetes mellitus[J]. Exp Clin Endocrinol Diabetes, 2018, 126(7): 406-410.
[10] Warncke K, Kummer S, Raile K, et al. Frequency and characteristics of MODY 1(HNF4A Mutation)and MODY 5(HNF1B Mutation): analysis from the DPV database[J]. J Clin Endocrinol Metab, 2019, 104(3): 845-855.
[11] Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes[J]. N Engl J Med, 2004, 350(18): 1838-1849.
[12] Ahmed DM, Abdel Dayem SM, Abdel Kader M, et al. Utilizing the KCNJ11 gene mutations in spotting Egyptian patients with permanent neonatal diabetes who can benefit from treatment shift[J]. Lab Med, 2017, 48(3): 225-229.
[13] 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.
[14] 李秀珍, 刘丽, 盛慧英, 等. 格列本脲治疗新生儿糖尿病4例分析[J].中国实用儿科杂志, 2012, 27(5): 364-367. LI Xiuzhen, LIU Li, SHENG Huiying, et al. Glibenclamide in the treatment of 4 cases of neonatal diabetes[J]. Chinese Journal of Practical Pediatrics, 2012, 27(5): 364-367.
[15] 王晓艳, 陈临琪, 孙辉, 等. 儿童糖尿病基因检测研究进展[J]. 中国实用儿科杂志, 2019, 34(6): 523-526. WANG Xiaoyan, CHEN Linqi, SUN Hui, et al. Research progress of genetic testing for childhood diabetes[J]. Chinese Journal of Practical Pediatrics, 2019, 34(6): 523-526.
[16] 张丽娜, 郭立新. 磺脲类降糖药物的临床认识[J]. 中国实用内科杂志, 2014, 34(10): 969-973. ZHANG Lina, GUO Lixin. Clinical knowledge of sulfonylurea hypoglycemic drugs[J]. Chinese Journal of Practical Internal Medicine, 2014, 34(10): 969-973.
[17] Shepherd H, Shields M, Hudson M, et al. A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin[J]. Diabetologia, 2018, 61(12): 2520-2527.
[18] Piccolo R, Franzone A, Koskinas KC, et al. Effect of diabetes mellitus on frequency of adverse events in patients with acute coronary syndromes undergoing percutaneous coronary intervention[J]. Am J Cardiol, 2016, 118(3): 345-352.
[19] Dallali H, Pezzilli S, Hechmi M, et al. Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing[J]. Acta Diabetol, 2019, 56(5): 515-523.
[20] Ming-Qiang Z, Yang-Li D, Ke H, et al. Maturity onset diabetes of the young(MODY)in Chinese children: genes and clinical phenotypes[J]. J Pediatr Endocrinol Metab, 2019, 32(7): 759-765.
[21] Bowman P, Sulen Å, Barbetti F, et al. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study[J]. Lancet Diabetes Endocrinol, 2018, 6(8): 637-646.
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