hrp0089rfc3.2 | Diabetes and Insulin 1 | ESPE2018

Personalized and Predictive Medicine for Pediatric Diabetes Through a Genetic Test Using Next Generation Sequencing

Schwitzgebel Valerie , Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

hrp0086fc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Next Generation Sequencing for the Diagnosis of Monogenic Diabetes in Switzerland

Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis , Castellsague-Perolini Montserrat , Santoni Federico , Schwitzgebel Valerie

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...

hrp0086p1-p239 | Diabetes P1 | ESPE2016

Fetal Growth Restriction Due to Maternal Congenital Hyperinsulinism Associated with a Novel Variant in GLUD1 and Intrauterine Diazoxide Exposure

Dirlewanger Mirjam , Klee Philippe , Ranza Emmanuelle , Gastaldi Giacomo , Boulvain Michel , Schwitzgebel Valerie M

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

hrp0082p1-d1-58 | Diabetes | ESPE2014

A leu402pro Mutation of the Non-hla Gene il18rap in Aggressive Neonatal Type 1 Diabetes Mellitus

Dirlewanger Mirjam , Blouin Jean-Louis , Bevillard Jeremy , Santoni Federico , Schwitzgebel Valerie

Background: Neonatal diabetes mellitus is defined by severe hyperglycemia appearing before 6 months of age. It occurs in about one in 200 000 live births and most cases are known to be of monogenic origin. Classical autoimmune type 1 diabetes mellitus (DM) is exceptional in this age group.Objective and hypotheses: Recently non-HLA type 1 DM susceptibility genes, such as IL18RAP, influencing the rate of progression to diabetes among children with...

hrp0084p1-33 | Diabetes | ESPE2015

Improved Genetic Testing for Monogenic Diabetes in the Swiss Population by Targeted Next Generation Sequencing

Dirlewanger Mirjam , Blouin Jean-Louis , Klee Philippe , Castellsague-Perolini Montserrat , Girardin Celine , Santoni Federico , Schwitzgebel Valerie

Background: Monogenic diabetes is a heterogeneous group of diabetes due to a single gene mutation and includes neonatal diabetes (NDM), MODY and rare forms of syndromic diabetes. These forms of diabetes remain undiagnosed in probably more than 90% of patients. The aim of the study was to identify mutations causing monogenic diabetes using a single test.Method: Swiss endocrinologists were proposed to participate in the study and to send blood samples of t...

hrp0084p1-96 | Growth | ESPE2015

Ligase IV Deficiency Syndrome as a Cause of Microcephalic Primordial Dwarfism in Dizygotic Twins

Girardin Celine , Ranza Emmanuelle , Klee Philippe , Dirlewanger Mirjam , Caflisch Marianne , Bottani Armand , Schwitzgebel Valerie

Background: Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders defined by severe growth restriction of both prenatal and postnatal weight (W), height (H), and particularly head circumference (HC).Objective and hypotheses: To elucidate the genetic origin of the MPD in dizygotic twins.Method: Exome sequencing of 19 genes known to be implicated in microcephaly was performed.Results: Diz...

hrp0084p3-754 | Diabetes | ESPE2015

Thyroid Function and Prevalence of Celiac Disease in Children with T1D in Lithuanian Pediatric Population

Stankute Ingrida , Dobrovolskiene Rimante , Jasinskiene Edita , Mockeviciene Giedre , Urbonaite Brone , Marciulionyte Dalia , Jurgeviciene Nijole , Schwitzgebel Valerie

Background: Patients with type 1 diabetes (T1D) are at higher risk for developing coexisting autoimmune diseases.Objective and hypotheses: To evaluate thyroid and celiac disease prevalence in children with T1D in Lithuanian paediatric population.Method: 777 patients (49.7% males) <18yrs with T1D, covering all T1D pediatric Lithuanian population, were examined. Serum free thyroxine (FT4), thyrotropin (TSH), antithyroid peroxidas...

hrp0092p2-70 | Diabetes and Insulin | ESPE2019

Evaluation of β-cell Function in Young MODY Patients using a Mixed Meal Tolerance Test

Stankute Ingrida , Morkunaite Ausra , Dobrovolskiene Rimante , Danyte Evalda , Razanskaite-Virbickiene Dovile , Jasinskiene Edita , Mockeviciene Giedre , Schwitzgebel Valerie , Verkauskiene Rasa

Background: Mixed meal tolerance test (MMTT) is a gold standard for evaluating β-cell function. There is limited data on MMTT and β-cell function in MODY patients.Objective: The aim was to analyze plasma C-peptide (CP) levels during MMTT in MODY patients as a biomarker of β-cell function.Methods: The cohort consisted of 39 patients with MODY genes mutations:...

hrp0086p2-p277 | Diabetes P2 | ESPE2016

Prevalence of Cardiovascular Risk Factors and Obesity in Youth with Type 1 Diabetes in Lithuania

Stankute Ingrida , Dobrovolskiene Rimante , Danyte Evalda , Razanskaite-Virbickiene Dovile , Jasinskiene Edita , Mockeviciene Giedre , Schwitzgebel Valerie , Verkauskiene Rasa

Background: Cardiovascular risk and obesity are rising problems among individuals with type 1 diabetes (T1D). Interventions targeted at decreasing cardiovascular risk in patients with diabetes may be most effective during adolescence and young adulthood, before atherosclerotic lesions become advanced or cardiac changes become irreversible.Objective and hypotheses: The aim of this study was to evaluate the prevalence of cardiovascular risk factors and obe...

hrp0086p2-p311 | Diabetes P2 | ESPE2016

Diabetes Distress in Adolescents and Young Adults with Type 1 Diabetes

Lasaite Lina , Dobrovolskiene Rimante , Danyte Evalda , Stankute Ingrida , Razanskaie-Virbickiene Dovile , Schwitzgebel Valerie , Marciulionyte Dalia , Verkauskiene Rasa

Background: Age and gender are important factors in adjustment and psychological well-being in patients with chronic physical illness.Objective and hypotheses: To determine whether diabetes distress varies by age and/or gender in type 1 diabetic (T1D) patients.Method: Diabetes distress was compared in 255 adolescents and 283 young adults with T1D using Problem Areas in Diabetes Scale.Results: High diabetes di...