hrp0089fc3.1 | Diabetes and Insulin 1 | ESPE2018

Neonatal Diabetes Owned to Potassium Channel Mutation: Response to Sulfonylureas According to the Genotype

Garcin Laure , Fauret Anne-Laure , Cave Helene , Polak Michel , Beltrand Jacques

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

hrp0086fc5.4 | Management of Disorders of Insulin Secretion | ESPE2016

Persistent Beneficial Metabolic Effect after Five Years in a Cohort of 28 Subjects with Neonatal Diabetes owing to Potassium Channel Mutation and Transferred from Insulin to Sulfonylureas

Hoarau Marie , Fauret Anne-Laure , Busiah Kanetee , Godot Cecile , Colas Sandra , Treluyer Jean-Marc , Scharfmann Raphael , Cave Helene , Polak Michel , Beltrand Jacques

Background: Sulfonylureas (SU) have proven to be effective in patients with monogenic diabetes owing to potassium channel mutation. They allow the discontinuation of insulin and a good metabolic control. Long-term data arguing for a persistent beneficial effect of SU are missing.Objective and hypotheses: SU provide a good metabolic control maintained over time in patients with neonatal diabetes.Method: From a French cohort of 34 pa...

hrp0086rfc5.6 | Management of Disorders of Insulin Secretion | ESPE2016

Clinical Management of the Mitchell-Riley Syndrome Due to RFX6 Gene Mutations: Aggressive Support Results in Improved Outcome

Poidvin Amelie , Chandra Vikash , Fauret-Amsellem Anne-Laure , Cave Helene , Beltrand Jacques , Tubiana-Rufi Nadia , Carel Jean-Claude , Polak Michel , Scharfmann Raphael

Background: Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell-Riley syndrome associating neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis, duodenal atresia, and severe chronic diarrhea. Nine cases have been reported so far and the condition has a poor prognosis with five of nine patients died before the age of 6 months.Objective and hypotheses: To report on the clinical management and outcome of tw...