Preview

Translational Medicine

Advanced search

ROLE OF MONOGENIC DIABETES IN STRUCTURE OF DIABETES MELLITUS IN CHILDREN: DIAGNOSTICS AND GENETIC PROGNOSIS

https://doi.org/10.18705/2311-4495-2014-0-3-16-22

Abstract

Monogenic diabetes includes neonatal diabetes and MODY. Often monogenic diabetes initially can be diagnosed as type 1 or type 2 diabetes. However, making of the correct diagnosis is required for changing of therapy and genetic counseling of family members. In this article the own clinical observations of two families with MODY 3 are presented. Confirmation of genetic mutation in HNF-1a gene leads to early diagnostics of diabetes and prevention of microvascular complications in some family members and explanation of some associated clinical features in this patients.

About the Authors

I. L. Nikitina
Federal Almazov Medical Research Centre
Russian Federation


I. Yu. Artemieva
Federal Almazov Medical Research Centre
Russian Federation


T. A. Khodyuchenko
Federal Almazov Medical Research Centre
Russian Federation


E. S. Vasichkina
Federal Almazov Medical Research Centre
Russian Federation


A. A. Kostareva
Federal Almazov Medical Research Centre
Russian Federation


References

1. Дедов И.И., Кураева Т.Л., Петеркова В.А. Сахарный диабет у детей и подростков. - М. : ГЭОТАР-Медиа, 2008. - 160 с.

2. Craig M.E., Hattersley A., Donaghue K.C. Definition, epidemiology and classification of diabetes in children and adolescents. ISPAD Clinical Practice Consensus Guidelines Compendium // Pediatric Diabetes. - 2009. - Vol. 10, № 12. - P. 3-12.

3. Дедов И.И., Петеркова В.А., Кураева Т.Л. Российский консенсус по терапии сахарного диабета у детей и подростков // Сахарный диабет. - 2010. - Спецвыпуск. - С. 1-8.

4. Никитина И.Л. Сахарный диабет у детей: современный взгляд на проблему // Бюллетень ФЦСКЭ им. В.А. Алмазова. - 2011, № 1. - С. 38-45.

5. Никитина И.Л. Неаутоиммунный сахарный диабет у детей // Лечащий врач. - 2010. - № 6. - С. 22-27.

6. Hattersley A.T., Shield J., Njolstad P. et al. The diagnosis and management of monogenic diabetes in children and adolescents. ISPAD Clinical Practice Consensus Guidelines Compendium // Pediatric Diabetes. - 2009. - Vol. 10, № 12. - P. 33-42.

7. Lambert A.P., Ellard S., Allen L.I. еt al. Identifying hepatic nuclear factor 1 alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes // Diabetes Care. - 2003. - Vol. 26, № 2. - P. 333-337.

8. Hattersley A.T., Ashcroft F.M. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy // Diabetes. - 2005. - Vol. 54, № 9. - P. 2503-2513.

9. Sagen J.V., Raeder H., Hathout E. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy // Diabetes. - 2004. - Vol. 53, № 10. - P. 2713-2718.

10. Codner E., Flanagan S., Ellard S. et al. High-Dose Glibenclamide Can Replace Insulin Therapy Despite Transitory Diarrhea in Early-Onset Diabetes Caused by a Novel R201L Kir6.2 Mutation // Diabetes Care. - 2005. - Vol. 28, № 3. - P. 758-759.

11. Zung A., Glaser B., Nimri R. et al. Glibenclamide Treatment in Permanent NeonatalDiabetesMellitus due to an Activating Mutation in Kir6.2 // J. Clin. Endocrinol. Me-tab. - 2004. - Vol. 89, № 11. - P. 5504-5507.

12. Pearson E.R., Flechtner I., Njolstad P.R. et al. Neonatal Diabetes International Collaborative Group. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations // New Engl. J. Med. - 2006. - Vol. 355, № 5. - P. 467-477.

13. Babenko A.P., Polak M., Cave H. et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus // New Engl. J. Med. - 2006. - Vol. 355, № 5. - P. 456-466.

14. Емельянов А.О., Захарова Е.Ю., Петряйкина Е.Е. и др. Неонатальный сахарный диабет: первые исследования распространенности и спектра мутаций в генах KCNJ11 и ABCC8 в России // V Всероссийский диабетологический конгресс. - М., 2010. - С.221.

15. Velho G., Froguel P., Clement K. et al. Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity-onset diabetes of the young // Lancet. - 1992. - V. 340, № 8817. - P. 444-448.

16. Yamagata K., Furuta H., Oda N. et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) // Nature. - 1996 б. - Vol. 384, № 6608. - P. 458-460.

17. Yamagata K., Oda N., Kaisaki P.J. et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) // Nature. - 1996а. - V. 384, № 6608. - P. 455-458.

18. Horikawa Y., Iwasaki N., Hara M. et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY // Nat. Genet. - 1997. - Vol. 17, № 4. - P. 384-385.

19. Colclough K., Bellanne-Chantelot C., Saint-Martin C. et al. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and huperinsulenemic hypoglycemia // Hum. Mutat. - 2013. - V. 34 , № 5. - P. 669-685.

20. Maestro M.A., Cardalda C., Boj S.F. et al. Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth // Endocr. Dev. - 2007. - V 12. - P. 33-45.

21. LOVD Gene Homepage. // [Электронный ресурс]. URL: http://www.lovd.nl/HNF1A.

22. Tuomi T., Honkanen E.H., Isomaa B. et al. Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3 // Diabetes Care. - 2006. - Vol. 29, № 2). - P. 189-194.

23. Зильберман Л.И., Кураева Т.Л., Шайтарова А.В. и др. Мутации в гене HNF1A в трех семьях с MODY3 // V Всероссийский диабетологический конгресс. - М., 2010. - С. 222.

24. Ellard S., Bellanné-Chantelot C., Hattersley A.T. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young // Diabetologia. - 2008. - V. 51(4). - P. 546-553.

25. Holmkvist J., Almgren P., Lyssenko V. et al. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes // Diabetes. - 2008. - Vol. 57. - P. 1738-1744.


Review

For citations:


Nikitina I.L., Artemieva I.Yu., Khodyuchenko T.A., Vasichkina E.S., Kostareva A.A. ROLE OF MONOGENIC DIABETES IN STRUCTURE OF DIABETES MELLITUS IN CHILDREN: DIAGNOSTICS AND GENETIC PROGNOSIS. Translational Medicine. 2014;(3):16-22. (In Russ.) https://doi.org/10.18705/2311-4495-2014-0-3-16-22

Views: 575


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2311-4495 (Print)
ISSN 2410-5155 (Online)