Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.
Description of the clinical case: Present in a 3-Year-old patient that debuts with hyperglycemia without ketosis, that has being catalogued as type 1 diabetes mellitus, therefore it initiates treatment with insulin (basal- bolus) with low dose (0.3 UI/Kg per day) and continuous monitoring system of glucose, being relevant in her clinical history the presences of antibodies negative and the low requirements of exogenous insulin after 2 years of evolution, with HbA1 6.5%. The genetic study showed a mutation of the gene HNF-1a in heterocygosis c.62 C> G before described. With these findings, the treatment began with sulfunilureas to (0.07 mg/kg per day) up to the maximum dose recommended (1.5 mg/kg per day) without therapeutic awaited response.
Conclusions: We are with a patient that is showing a mutation of the HNF-1α gen located at the region of the promoter in heterozygosis c.62 C>G of early beginning, leaving in evidence that this entity has a wide variability, not only in the age of beginning but in the response to the treatment with sulfunilureas.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology