ESPE Abstracts

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...