MODY diabetes and screening of gestational diabetes

Česká verze

Authors: J. Urbanová ¹; L. Brunerová ¹; M. A. Nunes ²; J. Brož ²
Authors place of work: Centrum pro výzkum diabetu, metabolismu a výživy, II. interní klinika FNKV a 3. LF UK Praha, přednosta prof. MUDr. I. Rychlík, CSc., FASN, FERA ¹; Interní klinika FN Motol a 2. LF UK Praha, přednosta prof. MUDr. M. Kvapil, CSc., MBA ²
Published in the journal: Ceska Gynekol 2020; 85(2): 124-130
Category: Přehledový článek

Summary

Objective: The aim of this article is to present a summary of the actual diagnostic possibilities and differentiation of MODY (Maturity-Onset Diabetes of the Young) from gestational diabetes (GDM) found during routine screening, and specific aspects of care and treatment of MODY during pregnancy and early postpartum period.

Design: Rewiev.

Settings: Centre for Research of Diabetes, Metabolism and Nutrition; Second Department of Internal Medicine University Hospital Královské Vinohrady and Third Faculty of Medicine, Prague. Department of Internal Medicine, Second Faculty of Medicine, Charles University, Prague.

Methods: Recent publications selected in PubMed with the key words MODY, gestational diabetes.

Results: Many patients with MODY, especially the glucokinase MODY, can be first diagnosed during pregnancy. It is estimated that MODY patients account for up to 5% of GDM cases found in routine screening of GDM. MODY should be considered in lean women around 25 years of age, with a positive family history of diabetes in one of the parents. The differentiation of MODY from GDM is of particular importance not only for the different management and goals of antidiabetic therapy and planning ultrasound controls of fetal growth during pregnancy, but also because of the risk of hyperinsulinemic hypoglycemia in newborns.

Conclusion: Recognition of MODY during pregnancy and adherence to existing recommendations concerning specific care of these patients is essential for the optimal course of their pregnancy and proper care of the newborn in the early postpartum period.

Keywords:

screening – MODY – gestational diabetes – GCK – HNF

Zdroje

1. DMEV, 2018, 21, 3, s. 131–135.

2. Andělová, K., Anderlová, K., Bláha, J., et al. Gestační diabetes mellitus, doporučený postup screeningu, gynekologické, perinatologické, diabetologické a neonatologické péče 2017. DMEV, 2018, 21, 3, s. 113–120.

3. Brunerova, L., Rahelic, D., Ceriello, A., et al. Use of oral antidiabetic drugs in the treatment of Maturity-Onset Diabetes of the Young (MODY): a minireview. Diabetes Metab Res Rev, 2018, 34, 1, e2940.

4. Diagnostic criteria and classification of hyperglycaemia first detected in pregnancy. Geneva: World Health Organization; 2013 (WHO/NMH/MND/13.2; http://www.who. int/diabetes/publications/Hyperglycaemia_In_ Pregnancy/en/, accessed 29 September 2016).

5. Dickens, LT., Naylor, RN. Clinical management of women with monogenic diabetes during pregnancy. Current Diabetes Reports, 2018, 18, p.12.

6. Dusatkova, P., Pruhova, S., Sumnik, Z., et al. HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. J Pediatr Endocrinol Metab, 2011, 24, 3–4, p. 187–189.

7. Ellard, S., Bellanné-Chantelot, C., Hattersley, AT. European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia, 2008, 51, 4, p. 546–553.

8. Ellard, S., Beards, F., Allen, LIS., et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia, 2000, 43, 2, p. 250–253.

9. Flack, JR., Ross, GP., Cheung, NW. GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. Diabet Med., 2015, 32, 12, p. 1596–1601. doi: 10.1111/dme.12830.

10. Gjesing, AP., Rui, G., Lauenborg, J., et al. High prevalence of diabetes-predisposing variants in MODY genes among Danish women with gestational diabetes mellitus. J Endocrin Society, 2017, 1, 6, p. 681–690. doi:10.1210/js.2017-00040.

11. Hattersley, AT., Beards, F., Ballantyne, E., et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet, 1998, 19, 3, p. 268–270.

12. Chakera, AJ., Steele, AM., Gloyn, AL., et al. Recognition and management of individuals with hyperglycaemia because of a heterozygous glucokinase mutation. Diabetes Care, 2015, 38, 7, p. 1383–1392.

13. Chakera, AJ., Spyer, G., Vincent, N., et al. The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. Diabetes Care, 2014, 37, p. 1230–1236.

14. Kleinberger, JW., Maloney, KA., Pollin, TI. The genetic architecture of diabetes in pregnancy: implications for clinical practice. Am J Perinatol, 2016, 33, 13, p. 1319–1326. doi: 10.1055/s-0036-1592078

15. Krejčí, H. Doporučený postup pro screening a péči o gestační diabetes – komentáře a praktické aspekty. DMEV, 2018, 21, 3, s. 122–128.

16. Lachance, CH. Practical aspects of monogenic diabetes: a clinical point of view. Can J Diabetes, 2016, 40, 5, p. 368–375.

17. Murphy, R. Monogenic diabetes and pregnancy. Obstet Med, 2015, 8, 3, p. 114–120. doi:10.1177/1753495X15590713

18. Naylor, R., Knight Johnson, A., del Gaudio, D. Maturity-Onset Diabetes of the Young Overview. 2018 May 24. In: Adam, MP., Ardinger, HH., Pagon, RA., et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK500456/

19. Pearson, ER., Boj, SF., Steele, AM., et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med., 2007, 4, 4, e118.

20. Rudland, VL., Hinchcliffe, M., Pinner, J., et al. Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New pregnancy screening criteria and utility of HbA1c. Diabetes Care, 2016, 39, 1, p. 50–52; doi: 10.2337/dc15-1001

21. Shepherd, M., Brook, AJ., Chakera, AJ., et al. Management of sulfonylurea treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. Diab Med, 2017, 34, 10, p. 13132–13139. https://doi.org/10.1111/dme.13388

22. Shields, BM., Hicks, S., Shepherd, MH., et al. Maturity onset diabetes of the young (MODY): how many cases are we missing? Diabetologia, 2010, 53, 12, p. 2504–2508.

23. Spyer, G., Hattersley, AT., Sykes, JE., et al. Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol, 2001, 185, 1, p. 240–241.

24. Stride, A., Vaxillaire, M., Tuomi, T., et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia, 2002, 45, p. 427–435.

25. Urbanová, J., Brunerová, L., Brož, J. Heterogeneity of gestational diabetes – do we take MODY into consideration as much as we should? Diab Res Clin Pract, 2019, 148, 2, p. 268–269. https://doi.org/10.1016/j.diabres.2018.11.009

26. Urbanová, J., Brunerová, L., Brož, J. Hidden MODY – Looking for a needle in a haystack. Front Endocrinol (Lausanne). 2018, 9, 355. doi:10.3389/fendo.2018.00355