Advertisement

MODY

  • K. Alexander IwenEmail author
  • Morten Schütt
Living reference work entry

Latest version View entry history

  • 4 Downloads
Part of the Springer Reference Medizin book series (SRM)

Zusammenfassung

Beim „maturity onset diabetes of the young“ (MODY) handelt es sich um eine heterogene Gruppe von monogenetisch vererbten Diabetesformen. Die Verläufe können sehr variabel sein, zum Teil auch lange klinisch unentdeckt bleiben. Eine Abgrenzung zu den sehr viel häufigeren Diabetesformen Typ 1 und Typ 2 ist für die betroffenen Patienten wichtig, da sich sowohl die Therapie als auch die Prognose wesentlich unterscheiden können.

Literatur

  1. Ahluwalia R, Perkins K et al (2009) Exenatide-a potential role in treatment of HNF1-alpha MODY in obese patients? Diabet Med 26(8):834–835CrossRefGoogle Scholar
  2. Ang SF, Lim SC, Tan CSH, Fong JCW, Kon WYC, Lian JX, Subramanium T, Sum CF (2016) A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians. Diabetes Res Clin Pract 119:13–22.  https://doi.org/10.1016/j.diabres.2016.06.008CrossRefPubMedGoogle Scholar
  3. Awa WL, Thon A et al (2011) Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. Eur J Endocrinol 164(4):513–520CrossRefGoogle Scholar
  4. Bacq Y, Jacquemin E et al (2003) Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation. Gastroenterology 125(5):1470–1475CrossRefGoogle Scholar
  5. Bellanné-Chantelot C, Coste J, Ciangura C, Fonfrède M, Saint-Martin C, Bouché C, Sonnet E, Valéro R, Lévy DJ, Dubois-Laforgue D, Timsit J (2016) Monogenic Diabetes Study Group of the Société Francophone du Diabète (SFD). High-sensitivity C-reactive protein does not improve the differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes: a grey zone analysis. Diabetes Metab 42(1):33–37.  https://doi.org/10.1016/j.diabet.2015.02.001. Epub 2015 Mar 6CrossRefPubMedGoogle Scholar
  6. Besser RE, Shepherd MH et al (2011) Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 34(2):286–291CrossRefGoogle Scholar
  7. Bluteau O, Jeannot E et al (2002) Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet 32(2):312–315CrossRefGoogle Scholar
  8. Butte NF, Hopkinson JM et al (1999) Adjustments in energy expenditure and substrate utilization during late pregnancy and lactation. Am J Clin Nutr 69(2):299–307CrossRefGoogle Scholar
  9. Chen L, Magliano DJ et al (2012) The worldwide epidemiology of type 2 diabetes mellitus–present and future perspectives. Nat Rev Endocrinol 8(4):228–236CrossRefGoogle Scholar
  10. Fajans SS, Bell GI (2006) Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia 49(5):1106–1108CrossRefGoogle Scholar
  11. Fajans SS, Bell GI (2011) MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care 34(8):1878–1884CrossRefGoogle Scholar
  12. Firdous P, Nissar K, Ali S, Ganai BA, Shabir U, Hassan T, Masoodi SR (2018) Genetic testing of maturity-onset diabetes of the young current status and future perspectives. Front Endocrinol (Lausanne) 9:253.  https://doi.org/10.3389/fendo.2018.00253. eCollection 2018. Review. PubMed PMID: 29867778; PubMedCentral PMCID: PMC5966560CrossRefGoogle Scholar
  13. Gat-Yablonski G, Shalitin S et al (2006) Maturity onset diabetes of the young–review. Pediatr Endocrinol Rev 3(3):514–520PubMedGoogle Scholar
  14. Genuth S, Alberti KG et al (2003) Follow-up report on the diagnosis of diabetes mellitus. Diabetes Care 26(11):3160–3167CrossRefGoogle Scholar
  15. Gupta RK, Vatamaniuk MZ et al (2005) The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest 115(4):1006–1015CrossRefGoogle Scholar
  16. Hansen T, Eiberg H et al (1997) Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes 46(4):726–730CrossRefGoogle Scholar
  17. Iwen KA, Klein J et al (2013) Maturity-onset diabetes of the young and hepatic adenomatosis – characterisation of a new mutation. Exp Clin Endocrinol Diabetes 121(6):368–371CrossRefGoogle Scholar
  18. Kerner W, Brückel J (2011) Definition, Klassifikation und Diagnostik des Diabetes mellitus. Diabetol Stoffwechsel 6(S 02):107–110CrossRefGoogle Scholar
  19. Lorini R, Klersy C et al (2009) Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care 32(10):1864–1866CrossRefGoogle Scholar
  20. Lumb AN, Gallen IW (2009) Treatment of HNF1-alpha MODY with the DPP-4 inhibitor Sitagliptin(1). Diabet Med 26(2):189–190CrossRefGoogle Scholar
  21. McDonald TJ, Colclough K et al (2011) Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med 28(9):1028–1033CrossRefGoogle Scholar
  22. Misra S, Owen KR (2018) Genetics of monogenic diabetes: present clinical challenges. Curr Diab Rep 18(12):141.  https://doi.org/10.1007/s11892-018-1111-4. Review. PubMed PMID: 30377832; PubMed Central PMCID: PMC6209016CrossRefPubMedPubMedCentralGoogle Scholar
  23. Mughal SA, Park R, Nowak N, Gloyn AL, Karpe F, Matile H, Malecki MT, McCarthy MI, Stoffel M, Owen KR (2013) Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes. Diabet Med 30(2):246–250.  https://doi.org/10.1111/dme.12066. PubMed PMID:23157689; PubMed Central PMCID: PMC4193536CrossRefPubMedPubMedCentralGoogle Scholar
  24. Naylor R, Philipson LH (2011) Who should have genetic testing for maturity-onset diabetes of the young? Clin Endocrinol 75(4):422–426CrossRefGoogle Scholar
  25. Online Mendelian Inheritance in Man (OMIM) Datenbank. http://omim.org/entry/606391. Zugegriffen am 20.10.2014
  26. Reznik Y, Dao T et al (2004) Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. J Clin Endocrinol Metab 89(3):1476–1480CrossRefGoogle Scholar
  27. Shields BM, Hicks S et al (2010) Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53(12):2504–2508CrossRefGoogle Scholar
  28. Shields BM, McDonald TJ et al (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia 55(5):1265–1272CrossRefGoogle Scholar
  29. Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J et al (2017) Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients. Diabetes Care 40(8):1017–1025.  https://doi.org/10.2337/dc17-0224CrossRefPubMedPubMedCentralGoogle Scholar
  30. Stride A, Shepherd M et al (2002a) Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care 25(12):2287–2291CrossRefGoogle Scholar
  31. Stride A, Vaxillaire M et al (2002b) The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 45(3):427–435CrossRefGoogle Scholar
  32. Stride A, Ellard S et al (2005) Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care 28(7):1751–1756CrossRefGoogle Scholar
  33. Thanabalasingham G, Owen KR (2011) Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ 343:6044CrossRefGoogle Scholar
  34. Thanabalasingham G, Shah N et al (2011) A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia 54(11):2801–2810CrossRefGoogle Scholar
  35. Vaxillaire M, Froguel P (2008) Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev 29(3):254–264CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature 2020

Authors and Affiliations

  1. 1.Universitätsklinikum Schleswig-Holstein, Medizinische Klinik ILübeckDeutschland
  2. 2.Praxis Diabetes plusLübeckDeutschland

Section editors and affiliations

  • Hendrik Lehnert
    • 1
  1. 1.Universitätsklinikum Schleswig-Holstein, Campus LübeckLübeckDeutschland

Personalised recommendations