nach oben

Wiener klinische Wochenschrift

Erschienen in:

06.09.2019 | review article

How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?

verfasst von: Jana Urbanova, M.D., Ph.D., Ludmila Brunerova, M.D., Ph.D., Jan Broz, M.D.

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 17-18/2019

Einloggen, um Zugang zu erhalten

Summary

Maturity onset diabetes of the young (MODY) represents a diabetes type which has an enormous clinical impact. It significantly alters treatment, refines a patient’s prognosis and enables early detection of diabetes in relatives. Nevertheless, when diabetes is manifested the vast majority of MODY patients are not correctly diagnosed, but mostly falsely included among patients with type 1 or type 2 diabetes, in many cases permanently. The aim of this article is to offer a simple and comprehensible guide for recognizing individuals with MODY hidden among adult patients with another type of long-term diabetes and in women with gestational diabetes.

Vorheriger Artikel Anti-amoebic activity of a cecropin-melittin hybrid peptide (CM11) against trophozoites of Entamoeba histolytica

Nächster Artikel Acute liver failure in immunocompetent patients infected with hepatitis E

Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011;34:1878–84.CrossRefPubMedPubMedCentral

Online Mendelian Inheritance in Man, OMIM. Maturity-onset diabetes of the young; MODY. 2016. http://mirror.omim.org/entry/606391. Accessed 15.2019.

Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ, et al. Systematic assessment of etiology in adults with a clinical diagnosis of young onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care. 2012;35(6):1206–12.CrossRefPubMedPubMedCentral

Brunerova L, Rahelic D, Ceriello A, Broz J. 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.CrossRef

Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, 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. Diabetologia. 2018;61(12):2520–7. https://doi.org/10.1007/s00125-018-4728-6.CrossRefPubMedPubMedCentral

Gardner DS, Tai ES. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diab Meta Syndr Obes Targets Ther. 2012;5:101–8. https://doi.org/10.2147/DMSO.S23353.CrossRef

Tsai EB, Sherry NA, Palmer JP. Herold KC The rise and fall of insulin secretion in type 1 diabetes mellitus. Diabetologia. 2006;49(2):261–70.CrossRefPubMed

Slingerland A. Monogenic diabetes in children and young adults: challenges for researcher, clinician and patient. Rev Endocr Metab Disord. 2006;7:171–85.CrossRefPubMedPubMedCentral

Průhová Š, Dušátková P, Neumann D, Hollay E, Cinek O, Lebl J, et al. Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY? Diabetes Care. 2013;36(9):2573–4.CrossRefPubMedPubMedCentral

10.

Horikawa Y, Enya M, Mabe H, Fukushima K, Takubo N, Ohashi M, et al. NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. Pediatr Diabetes. 2018;19(2):236–42. https://doi.org/10.1111/pedi.12553.CrossRefPubMed

11.

Grzanka M, Matejko B, Szopa M, Kiec-Wilk B, Malecki MT, Klupa T. Assessment of newly proposed clinical criteria to identify HNF1A MODY in patients with an initial diagnosis of type 1 or type 2 diabetes mellitus. Adv Med. 2016; https://doi.org/10.1155/2016/4243784.CrossRefPubMedPubMedCentral

12.

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):546–53.CrossRefPubMedPubMedCentral

13.

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, et al. Population-based assessment of a biomarker-based screening pathway to aid diagnosis of Monogenic diabetes in young-onset patients. Diabetes Care. 2017;40(8):1017–25.CrossRefPubMedPubMedCentral

14.

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, et al. Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS ONE. 2013;8:e65326.CrossRefPubMedPubMedCentral

15.

Stride A, Shields B, Gill-Carey O, Chakera AJ, Colclough K, Ellard S, et al. Cross sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014;57(1):54–6.CrossRefPubMed

16.

Pruhova S, Dusatkova P, Kraml PJ, Kulich M, Prochazkova Z, Broz J, et al. Chronic mild hyperglycemia in GCK-MODY patients does not increase carotid intima-media thickness. Int J Endocrinol. 2013; https://doi.org/10.1155/2013/718254.CrossRefPubMedPubMedCentral

17.

Chakera AJ, Steele AM, Gloyn AL, Shepherd MH, Shields B, Ellard S, et al. Recognition and management of individuals with hyperglycaemia because of a heterozygous glucokinase mutation. Diabetes Care. 2015;38(7):1383–92.CrossRefPubMed

18.

Stanik J, Dusatkova P, Cinek O, Valentinova L, Huckova M, Skopkova M, et al. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia. 2014;57(3):480–4.CrossRefPubMed

19.

Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER. Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med. 2010;27(2):157–61.CrossRefPubMed

20.

Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, et al. Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia. 2012;55:123–7.CrossRefPubMed

21.

Naylor R, Knight Johnson A, del Gaudio D. Maturity-onset diabetes of the young overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle: University of Washington; 2018. pp. 1993–2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK500456/.

22.

Liu L, Nagashima K, Yasuda T, Liu Y, Hu HR, He G, et al. Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes. Diabetologia. 2013;56(12):2609–18.CrossRefPubMedPubMedCentral

23.

Sood S, Landreth H, Bustinza J, Chalmers L, Thukaram R. Neonatal diabetes: case report of a 9-week-old presenting diabetic Ketoacidosis Due to an activating ABCC8 gene mutation. Journal of Investigative Medicine High Impact Case Reports. 2017;5(1):2324709617698718.CrossRefPubMedPubMedCentral

24.

Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care. 2004;27(5):1102–7.CrossRefPubMed

25.

Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, et al. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia. 2002;45(12):1709–12. Dec.CrossRefPubMed

26.

Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol. 2015;11(2):102–12. https://doi.org/10.1038/nrneph.2014.232.CrossRefPubMed

27.

Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, et al. Hepatocyte nuclear factor‑1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med. 2006;23(12):1301–6.CrossRefPubMed

28.

Weber P, Ambrosova P, Canov P, Weberova D, Kuklinek P, Meluzinova H, et al. GAD antibodies in T1D and LADA—relations to age, BMI, c‑peptide, IA‑2 and HLA-DRB1*03 and DRB1*04 alleles. Adv Gerontol. 2011;24(2):312–8.PubMed

29.

Urbanová J, Rypáčková B, Procházková Z, Kučera P, Cerná M, Anděl M, et al. Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. Diabet Med. 2014;31(4):466–71.CrossRefPubMed

30.

Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, et al. Mutation in the insulin gene can cause MODY and antibody-negative type 1 DM. Diabetes. 2008;57:1034–42.CrossRef

31.

Kahn SE, Cooper ME, Del Prato S. Pathophysiology and treatment of type 2 diabetes: perspectives on the past, present and future. Lancet. 2014;383(9922):1068–83. https://doi.org/10.1016/S0140-6736(13)62154-6.CrossRefPubMed

32.

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;45:427–35. https://doi.org/10.1007/s00125-001-0770-9.CrossRefPubMed

33.

Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 2000;17(7):543–5.CrossRefPubMed

34.

McDonald TJ, Shields BM, Lawry J, Owen KR, Gloyn AL, Ellard S, et al. High sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care. 2011;34(8):1860–2.CrossRefPubMedPubMedCentral

35.

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007;4(4):e118.CrossRefPubMedPubMedCentral

36.

Fajans SS, Bell GI, Paz VP, et al. Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res. 2010;156(1):7–14.CrossRefPubMedPubMedCentral

37.

Malecki MT, Jhala U, Antonellis A, Fields L, Doria A, Orban T, et al. Mutations in NEUROD1 are associated with the development of type two diabetes. Nat Genet. 1999;23:323–8. https://doi.org/10.1038/15500.CrossRefPubMed

38.

Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci U S A. 2009;106:14460–5.CrossRefPubMedPubMedCentral

39.

Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Natl Acad Sci U S A. 2005;102:4807–12. https://doi.org/10.1073/pnas.0409177102.CrossRefPubMedPubMedCentral

40.

Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab. 2007;92:2821–6.CrossRefPubMed

41.

Prundate S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, et al. Loss-of-function mutations in APPL1 in familial diabetes mellitus. Am J Hum Genet. 2015;97:177–85. https://doi.org/10.1016/j.ajhg.2015.05.011.CrossRef

42.

Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006;38:54–62.CrossRefPubMed

43.

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 Endocr Soc. 2017;1(6):681–90. https://doi.org/10.1210/js.2017-00040.CrossRefPubMedPubMedCentral

44.

American Diabetes Association. Classification and diagnosis of diabetes: standards of medical care in diabetesd 2018. Diabetes Care. 2018;41(Suppl. 1):S13–S27. https://doi.org/10.2337/dc18-S002.CrossRef

45.

Chakera AJ, Steele AM, Gloyn A, et al. Recognition and management of individuals with hyperglycemia because of heterozygous glucokinase mutations. Diabetes Care. 2015;38:1383–92.CrossRefPubMed

46.

Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP. 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;37:1230–6.CrossRefPubMed

47.

Rudland VL, Hinchcliffe M, Pinner J, Cole S, Mercorella B, et al. Identifying glucokinase monogenic diabetes in a multiethnic gestational diabetes mellitus cohort: new pregnancy screening criteria and utility of HbA_1c. Diabetes Care. 2016;39(1):50–2. https://doi.org/10.2337/dc15-1001.CrossRefPubMed

48.

Flack JR, Ross GP, Cheung NW. GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. Diabet Med. 2015;32(12):1596–601. https://doi.org/10.1111/dme.12830.CrossRefPubMed

49.

Lachance CH. Practical aspects of monogenic diabetes: a clinical point of view. Canadian Journal of Diabetes. 2016;40(5):368–75.CrossRefPubMed

50.

Bellanné-Chantelot C, Lévy DJ, Carette C, Saint-Martin C, Riveline JP, Larger E, et al. Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. J Clin Endocrinol Metab. 2011;96:1346–51.CrossRef

51.

Sung-Hoon K. Maturity-onset diabetes of the young: what do clinicians need to know? Diabetes Metab J. 2015;39(6):468–77.CrossRef

Titel: How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?
verfasst von: Jana Urbanova, M.D., Ph.D.
Ludmila Brunerova, M.D., Ph.D.
Jan Broz, M.D.
Publikationsdatum: 06.09.2019
Verlag: Springer Vienna
Erschienen in: Wiener klinische Wochenschrift / Ausgabe 17-18/2019
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI: https://doi.org/10.1007/s00508-019-01543-6

Springer Medizin Österreich

Summary

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 17-18/2019

Anti-amoebic activity of a cecropin-melittin hybrid peptide (CM11) against trophozoites of Entamoeba histolytica

Patterns and prevalence of dyslipidemia in patients with different etiologies of chronic liver disease

Veranstaltungstipps:

Serum nectin-2 and nectin-4 are diagnostic in lung cancer: which is superior?

MUW researcher of the month

Acute sinusitis