hrp0082p3-d2-744 | Diabetes (3) | ESPE2014

Nine-Year-Old Boy with Wolfram Syndrome: Case Report

Jakubowska Ewa , Michalak Justyna , Florys Bozena , Mlynarski Wojciech , Zmyslowska Agnieszka , Szadkowska Agnieszka , Luczynski Wlodzimierz , Olszewska-Glowinska Barbara , Bossowski Artur

Background: Wolfram syndrome is a rare progressive genetic neurodegenerative disorder connected with diabetes mellitus, diabetes insipidus, optic atrophy, deafness, neurologic, and endocrine abnormalities. Wolfram syndrome is inherited in autosomal recessive manner – due to mutation of the WFS1 gene which is located on chromosome 4.Objective and hypotheses: A 9-year-old boy, diagnosed with diabetes mellitus at the age of 5.5 years, was admitted to h...

hrp0095p1-241 | Diabetes and Insulin | ESPE2022

3 Screen ICA TM Elisa - A New Tool for Identify Pre-Clinical Diabetes in First-Degree Relatives of Patients with Type 1 Diabetes (Pre-D1Abetes Study)

Noiszewska Klaudyna , Bossowski Artur , Zasim Aneta , Jamiołkowska-Sztabkowska Milena , Polkowska Agnieszka , Mazur Artur , Brzuszek Marta , Fichna Piotr , Niechciał Elżbieta , Szalecki Mieczysław , Wysocka-Mincewicz Marta , Myśliwiec Małgorzata , Żalińska Magdalena , Szmigierko-Kawko Małgorzata , Noczyńska Anna , Zubkiewicz-Kucharska Agnieszka , Chobot Agata , Górska-Flak Karolina , Ochab Agnieszka , Szadkowska Agnieszka , Wyka Krystyna , Pietrzak Iwona , Pilecki Olgierd , Jarosz-Chobot Przemysława , Rusak Ewa , Beń-Skowronek Iwona , Sieniawska Joanna , Szypowska Agnieszka , Nazim Joanna , Walczak Mieczysław , Jóźwa Anita , Marcinkiewicz Katarzyna , Powell Michael , Amoroso Marie , Rees Smith Bernard , Furmaniak Jadwiga

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...