ESPE Abstracts

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

Introduction: Neonatal diabetes mellitus (NDM) is a rare monogenic disease associated with genetic defects in pancreatic beta cell number and/or function. It can be divided into two forms: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM is usually diagnosed within the first month after birth and usually regresses before the age of one year, but may reappear during adolescence. In contrast, PNDM is a lifelong di...