Maturity Onset Diabetes of the Young in Diabetology Practice

Abstract

Maturity onset diabetes of the young (MODY) belongs to the group of diseases which have monogenic, autosomally dominant inheritance and manifests as a diabetes of forward onset (revealing itself before the age of 25). The most common forms are: a mutation of hepatocyte nuclear factor 1α (HNF) called MODY 3 and a mutation within glucokinase (GCK) gene called MODY 2. The patients with MODY are often initially classified as a diabetes type 1 or a diabetes type 2. We are introducing 3 patient cases of MODY 2 and 2 patient cases of MODY 3 diagnosed and treated in the Department of Paediatrics, Endocrinology and Diabetology of Provincial Children's Hospital in Bydgoszcz. Characteristic clinical picture, familial appearance of diabetes, a lack of immune background and a mild course of the disease has drawn suspicion about different type of diabetes. The evidence of genetic background of diabetes has given an opportunity to modify treatment whether for diagnosed patients or their relatives. A proper recognition of MODY determines an optimal treatment and forecast prognosis for the possible future complications.

A new classification of diabetes mellitus – current approaches and challenges

“…At least fourteen MODY subtypes with distinct genetic aetiologies have been identified. Given the heterogeneity of the MODY, common features are high phenotypic penetration, early age of the disease -15-35 years, occurrence in many generations of the same family with autosomal dominant model of inheritance, with equal incidence of the disease by women and men, absence of the ketoacidosis (34).…”