MODY3 in the child with type 2 diabetes mellitus phenotype: case report
https://doi.org/10.14341/2072-0351-3762
Abstract
MODY is a heterogeneous group of diseases that stem from certain genetic mutations and are characterized by beta-cell dysfunction, early clinical onset (before the age of 25) and autosomal dominant inheritance. Nowadays many studies address atypical variants of diabetes mellitus (DM) and consequential problems in differential diagnosis. Though generally patients with MODY have normal body weight, the ongoing spread of obesity will probably produce comorbid forms and thus alter clinical picture. We present a case of DM in a 13-year-old patient that characterizes development of MODY3 in type 2 DM-like phenotype.
About the Authors
Tamara Leonidovna Kuraevaprof., d.m.n., zav. otdeleniem diabeta Instituta detskoy endokrinologii
Elena Alexandrovich Sechko
klinicheskiy ordinator Instituta detskoy endokrinologii
Irina Alexandrovna Eremina
aspirant Instituta detskoy endokrinologii
O N Ivanova
k.b.n., v.n.s. laboratorii genetiki i klinicheskoy immunologii
Sergey Alexandrovich Prokof’ev
k.b.n.
References
1. Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia. 2012 May;55(5):1265–1272. DOI: http://dx.doi.org/10.1007/s00125-011-2418-8
2. Сахарный диабет у детей и подростков. Консенсус ISPAD. 2009. 239 с.
3. Титович Е.В., Кураева Т.Л., Прокофьев С.А., Петеркова В.А., Дедов И.И. HLA-гаплотипы, аутоантитела к β-клеткам: роль в прогнозировании cахарного диабета 1 типа (результаты 11-летнего наблюдения). Сахарный диабет. 2010; (4): 12–17.
4. Pinhas-Hamiel O, Zeitler P. Clinical presentacion and treatment of type 2 diabetes in children. Pediatr Diabetes. 2007 Dec;8 Suppl 9:16–27. DOI: http://dx.doi.org/10.1111/j.1399-5448.2007.00330.x
5. Кураева Т.Л., Дубинина И.А. Клиника и дифференциальная диагностика сахарного диабета 2 типа в детском возрасте. Сахарный диабет. 2009;(3):16–21.
6. Tattersal RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type of diabetes in young people. Diabetes. 1975 Jan;24(1):44–53.
7. Nyunt O, Wu JY, McGown IN, Harris M, Huynh T, Leong GM, Cowley DM, Cotterill AM. Investigating Maturity Onset Diabetes of the Young. Clin Biochem Rev. 2009 May;30(2):67–74.
8. Кураева Т.Л., Зильберман Л.И., Прокофьев С.А., Иванова О.Н., Еремина И.А., Сечко Е.А., Щеглова О.С., Дианов О.А., Шайтарова А.В. MODY – диабет у детей и подростков. Сборник тезисов VI Всероссийского конгресса эндокринологов, 27–31 мая 2012. Москва; 2012. С. 577.
9. Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet. 2006 Jul 15;15(14):2216–2224.
10. Habeb AM, George ET, Mathew V, Hattersley AL. Response to oral gliclazide in a pre-pubertal child with hepatic nuclear factor-1 alpha maturity onset diabetes of the young. Ann Saudi Med. 2011 Mar–Apr;31(2):190–193. DOI: http://dx.doi.org/10.4103/0256-4947.75590 ley PJ, Hattersley AT. Identifying Hepatic Nuclear Factor 1Mu- tations in Children and Young Adults With a Clinical Diagnosis of Type 1.Diabetes. Diabetes Care. 2003 Feb;26(2):333–337.
11. Lambert AP, Ellard S, Allen LI, Gallen IW, Gillespie KM, Bingley PJ, Hattersley AT. Identifying Hepatic Nuclear Factor 1Mutations in Children and Young Adults With a Clinical Diagnosis of Type 1.Diabetes. Diabetes Care. 2003 Feb;26(2):333–337.
12. Кураева Т.Л., Зильберман Л.И., Титович Е.В., Петеркова В.А. Генетика моногенных форм диабета. Сахарный диабет. 2011;(1):20–27.
13. Петеркова В.А., Кураева Т.Л., Зильберман Л.И., Емельянов А.О. Моногенные формы сахарного диабета у детей и подростков. Сахарный диабет: диагностика, лечение, профилактика. Под редакцией академика РАН и РАМН Дедова ИИ, профессора Шестаковой М.В. М: Медицинское информационное агентство; 2011. С. 667–699.
14. Bowden SA, Hoffman RP. Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweigth adolescent. Pediatr Diabetes. 2008 Apr;9(2):162–164. DOI: http://dx.doi.org/10.1111/j.1399-5448.2007.00335.x
15. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia. 2010 Dec;53(12):2504–2508. DOI: http://dx.doi.org/10.1007/s00125-010-1799-4.
16. Zeitler P. Approach to the Obese Adolescent with New-Onset Diabetes. J Clin Endocrinol Metab. 2010 Dec;95(12):5163– 5170. DOI: http://dx.doi.org/10.1210/jc.2010-0958
17. Reinehr T, Schober E, Wiegand S, Thon A, Holl R; DPV-Wiss Study Group. β-Cell autoantibodies in children with type 2 diabetes mellitus: subgroup or misclassification? Arch Dis Child. 2006 Jun;91(6):473–477.
18. Umpaichitra V, Banerji MA, Castells S. Autoantibodies in children with type 2 diabetes mellitus. J Pediatr Endocrinol Metab. 2002; (15):525–230.
19. Кураева Т.Л., Дубинина И.А. Клиническая и дифференциальная диагностика сахарного диабета 2 типа в детском возрасте. Сахарный диабет. 2009;(3):16–21.
20. Дедов И.И., Зубкова Н.А., Арбатская Н.Ю., Акопова А.Г., Тюльпаков А.Н. MODY тип 2: клинические и молекулярно-генетические характеристики 13 случаев заболевания. Первое описание MODY в России. Проблемы эндокринологии. 2009; (3):3–8.
21. Ellard S, Bellanné-Chantelot C, Hattersley AT; Euro- pean Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008 Apr;51(4):546–553.
Review
For citations:
Kuraeva T.L., Sechko E.A., Eremina I.A., Ivanova O.N., Prokof’ev S.A. MODY3 in the child with type 2 diabetes mellitus phenotype: case report. Diabetes mellitus. 2013;16(2):88-93. (In Russ.) https://doi.org/10.14341/2072-0351-3762

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