ESPE Abstracts

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 ...

Introduction: Nephropathic cystinosis is a rare inherited lysosomal storage disorder due to mutation in CTNS gene. Cystinosis metabolic bone disease (CMBD) represents an evident multifactorial problem in those patients necessitating multidisciplinary team approach.Methods: Prospectively eighteen patients with infantile nephropathic cystinosis had been recruited from Cystinosis Clinic, Children's Hospital, Cairo Univ...