hrp0098p2-78 | Diabetes and Insulin | ESPE2024

Permanent Neonatal Diabetes in Kosova, incidence, genetics, clinical phenotype and treatment

Mulliqi Kotori Vjosa , Kotori Afrim , Krasniqi Elida , Rramosaj Atifete , Ejupi Valon

Backgorund: Neonatal diabetes is a rare genetic condition with multiple mechanisms, some of them diagnosed in molecular levels.Objectives: To present the incidence, genetics, clinical phenotype and treatment in permanent neonatal diabetes in Kosova.Methods: Patients with PNDM that were identified between 2007 and 2022 were clinically phenotyped and gene sequencing of ABCC8, KCNJ11 ...