Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience

ConclusionsPNDM is a heterogenous disease with variable genotypes and clinical phenotypes among Egyptian patients.EIF2AK3, INS,ABCC8, and KCNJ11 mutations were the commonest causes of PNDM in the study cohort. All patients with KATP channel mutations were effectively treated with glyburide, reflecting the fact that genetic testing for patients with NDM is not only important for diagnosis but also for treatment plan and prognosis.
Source: Acta Diabetologica - Category: Endocrinology Source Type: research