Monogen erbliche Formen des Diabetes mellitus – Genetische Diagnostik

Zusammenfassung

Diabetes mellitus (DM) ist eine symptomatische Beschreibung eines heterogenen Krankheitsgeschehens mit einem gemeinsamen Leitsymptom: einem mehr oder minder ausgeprägten erhöhten Blutzuckerspiegel (Hyperglykämie). Die meisten Formen und Fälle eines DM sind multifaktoriell erblich. Etwa 5 % der Fälle haben eine monogen erbliche Ursache. Zu den monogenen DM-Formen gehören MODY (Maturity Onset Diabetes of the Young), mitochondrialer DM, neonataler DM und DM im Rahmen einer Schwangerschaft. Ein eindeutiger Nachweis der Ursache ist bei monogen erblichen DM-Formen durch molekulargenetische Analysen möglich. Eine solche molekulare Diagnostik ist für die betroffenen Patienten und ihre Familienangehörigen von großer Bedeutung, da ein entsprechender Befund eine verbesserte Behandlung, Prävention und Prognose ermöglicht.

Summary

Diabetes mellitus (DM) is a symptomatic description of a heterogeneous spectrum of diseases that have a common leading symptom: a more or less elevated level of blood glucose (hyperglycemia). Most forms and cases of DM are multifactorial inherited traits. Approximately 5 % are of monogenic origin. Monogenic forms are MODY (Maturity Onset Diabetes of the Young), mitochondrial DM, neonatal DM, and forms of gestational DM. An explicit proof of the cause of monogenic forms of DM is possible with molecular genetic analyses. Application of molecular genetic diagnostics is for the patients and their family members of importance since respective results allow better decisions for therapy, prevention and prognoses.

Key words

genetic diagnostics - monogenic heritable diabetes mellitus - genome based personalized medicine

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