hrp0086p1-p229 | Diabetes P1 | ESPE2016

Phenotypic Variability of Identical Mutations in the ABCC8 Gene in Two Families

Rozenkova Klara , Zapletalova Jirina , Dusatkova Lenka , Dusatkova Petra , Obermannova Barbora , Pruhova Stepanka , Lebl Jan , Sumnik Zdenek

Background: Mutations in the SUR1 subunit of the KATP channel encoded by the ABCC8 gene can result in diverse phenotypes ranging from Transient Neonatal Diabetes (TNDM) to type 2 diabetes in adulthood. These patients may benefit from sulphonylurea treatment.Objective and hypotheses: To describe the course of diabetes in two families with ABCC8 gene mutations and to assess the effect of sulphonylurea treatment.<p class="ab...

hrp0092p1-330 | Diabetes and Insulin (2) | ESPE2019

Evaluation of Clinical, Laboratory and Therapeutic Features and Long Term Follow-up Results in 44 Cases with Genetic Diagnosis of MODY; Single Center Experience

Ozalkak Servan , Keskin Meliksah , Çetinkaya Semra , Erdeve Senay Savas , Bayramoglu Elvan , Aycan Zehra

Introduction-Aim: MODY;It is an autosomal dominant, rare type of diabetes that occurs in young people as a result of mutations of beta cell function and genes involved in insulin secretion. The cases may be misdiagnosed as Type1 and Type2 diabetes. Considering that MODY is clinically and genetically heterogeneous, the findings should be evaluated correctly. It is important to define the clinical-laboratory characteristics of diagnosis and follow-up of patients...