Diagnose und Behandlung des Maturity-Onset Diabetes of the Young (MODY)

Häufig werden diese Diabetesformen als Typ-1- oder Typ-2-Diabetes fehldiagnostiziert. Für eine optimale Behandlung und Prävention diabetesbedingter Folgeerkrankungen ist jedoch eine frühzeitige Diagnose sowohl für den Patienten als auch für asymptomatische Angehörige entscheidend. Bei entsprechendem Verdacht auf MODY sollte nicht gezögert werden, eine genetische Diagnostik bei dem Indexpatienten einzuleiten.

Abstract

Maturity onset diabetes of the young (MODY) is the most frequent form of monogenetic diabetes with an autosomal dominant inheritance pattern. Often MODY is misdiagnosed as either type 1 or type 2 diabetes. Early diagnosis is of key importance for the introduction of an adequate treatment and predictive genetic testing of at-risk relatives. Furthermore, prompt diagnosis allows estimation of the clinical course and, thus, risk assessment of diabetes complications. Diagnostic workup for MODY requires genetic testing and is indicated in the case of a positive family history of more than two generations affected, initial diagnosis before age 25, normal body weight, and negative diabetes-associated antibodies. Sulfonylureas are still considered first-line treatment in HNF4A-MODY and HNF1A-MODY. By contrast, life-style intervention comprising a balanced diet and regular physical activity is often sufficient in GCK-MODY. In most patients with HNF1B-MODY, adequate glycemic control is only achievable after initiation of insulin treatment. The article aims at giving an overview on diagnosis and treatment of MODY.

Schlüsselwörter

HNF1A - GCK - Mutation - monogenetischer Diabetes - genetische Analyse

Keywords

HNF1A - GCK - mutation - monogenetic diabetes - genetic analysis

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