hrp0089p1-p080 | Diabetes & Insulin P1 | ESPE2018

Successful Transition to Sulfonylurea Therapy in Infant with Neonatal Diabetes, Developmental Delay, Epilepsy (DEND Syndrome) due to F132L ABCC8 Mutation

Tikhonovich Yulia , Zubkova Natalia , Petryaikina Elena , Ribkina Irina , Garyaeva Irina , Tiulpakov Anatoly

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

hrp0084fc3.2 | Diabetes | ESPE2015

Experience with Molecular Diagnosis in 48 Cases of Neonatal Diabetes Mellitus Using Targeted Next-Generation Sequencing

Tikhonvich Yulia , Vasilyev Evgeny , Petrov Vasily , Malievsky Oleg , Petryaikina Elena , Ribkina Irina , Stotikova Olga , Tiulpakov Anatoly

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

hrp0097p2-130 | Diabetes and Insulin | ESPE2023

Insulin-dependent diabetes mellitus in a young child in the structure of monogenic immune dysregulation syndrome (LRBA deficiency)

Tikhonovich Yulia , Petryaikina Elena , Vorontsova Inna , Putilina Ekaterina , Kondratenko Irina , Tyulpakov Anatoly

Objectives: Diabetes mellitus (DM) as part of autoimmune dysregulation syndromes holds a unique place among DM monogenic forms. Early diagnosis of the disease is critical for pathogenetic therapy to be prescribed. We describe a clinical case of insulin-dependent DM in combination with severe autoimmune enteropathy in a young patient who had a novel compound heterozygous mutation in the LRBA gene.Methods: The patient unde...