ESPE Abstracts

Introduction: Patients with type 1 diabetes (T1D) have a higher rate of morbidity and mortality compared with the general population, which varies across countries. Diabetic nephropathy (DN) is a common and serious complication of T1D. Osteopontin (OPN) is a calcium binding phosphoprotein that is expressed in glomerular basement membrane. OPN can be a potential marker of vasculopathy and subclinical atherosclerosis and hence a predictor of DN in T1D patients. ...

Introduction: Microalbuminuria is the earliest sign of diabetic nephropathy. Cubilin encoded by the CUBN gene is one of the receptor proteins accountable for albumin reabsorption in proximal renal tubules. Cubulin gene (CUBN) was identified as a significant locus for albuminuria. A strong association between CUBN variant rs1801239 and albuminuria was detected in general population.Aim of the work: The aim of the current ...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...