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Molekulare Diagnostik des Diabetes mellitus

Molecular diagnosis of diabetes mellitus

  • Schwerpunkt: Neue diagnostische Verfahren
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Zusammenfassung

Diabetes mellitus ist der Sammelbegriff für heterogene Störungen des Stoffwechsels, deren Leitsymptom die chronische Hyperglykämie ist. Beim Typ-1- und Typ-2-Diabetes mellitus handelt es sich um polygene Erkrankungen, die sich unter dem Einfluss bestimmter Umweltfaktoren manifestieren. Eine genetische Diagnose dieser Diabetesformen ist nicht möglich, wohl aber können genetische Varianten einzelner Suszeptibilitätsgene im Rahmen spezieller wissenschaftlicher Fragestellungen untersucht werden. Außerdem gibt es definierte genetische Defekte im Sinne monogener Diabetesformen, die zu gestörter β-Zellfunktion oder verminderter Insulinwirkung führen. Eine genetische Untersuchung erlaubt hier die korrekte Klassifikation des Diabetes, ermöglicht eine humangenetische Beratung und eine adäquate Therapieeinleitung.

Abstract

Diabetes mellitus comprises a heterogeneous group of disorders characterized by chronic hyperglycemia. Type 1 and type 2 diabetes result from alterations of various genes, each having partial and additive effects. Thus, the inheritance pattern is rather complex, and environmental factors play an important role in the manifestation and clinical course of the disease. There is no genetic test to diagnose diabetes mellitus type 1 or type 2. However, certain susceptibility genes and genetic variations can be examined for specific scientific questions. Furthermore, defined genetic defects exist of pancreatic β-cell function (maturity-onset diabetes of the young, mitochondrial diabetes) and insulin action (e.g. insulin resistance syndromes and lipodystrophy syndromes) resembling monogenic disorders. In these cases, genetic tests are crucial for the correct classification of the type of diabetes, genetic counseling, and initiation of the appropriate therapy regimen.

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  1. Medizinische Klinik II, Klinikum Grosshadern der Universität München

    U. C. Broedl &  B. Göke

  2. Medizinische Klinik II, Klinikum Grosshadern, Marchioninistraße 15, 81377, München

    B. Göke

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  1. U. C. Broedl
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  2. B. Göke
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Correspondence to B. Göke.

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Broedl, U.C., Göke, B. Molekulare Diagnostik des Diabetes mellitus. Internist 47, 47–54 (2006). https://doi.org/10.1007/s00108-005-1530-6

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