title: Nephropathic cystinosis: an update.
abstract: OBJECTIVE
  Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.
  
  
  RESULTS
  In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.
  
  
  CONCLUSIONS
  The development of alternative therapeutic monitoring strategies and new systemic and ocular cysteamine formulations might improve outcome of cystinosis patients in the near future. With the dawn of stem cell based therapy and new emerging gene-editing technologies, novel tools have become available in the search for a cure for cystinosis.
authors.affiliation: aDepartment of Pediatric Nephrology, University Hospitals Leuven bDepartment of Development and Regeneration, KU Leuven, Leuven, Belgium cDepartment of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt dDepartment of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Koenraad R
authors.initials: KR
authors.lastname: Veys
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Elmonem
authors.forename: Fanny O
authors.initials: FO
authors.lastname: Arcolino
authors.forename: Lambertus
authors.initials: L
authors.lastname: van den Heuvel
authors.forename: Elena
authors.initials: E
authors.lastname: Levtchenko
mesh_terms: D003543:Cysteamine / Q000627:therapeutic use*; D003554:Cystinosis / Q000175:diagnosis* / Q000628:therapy*; D005260:Female; D005544:Forecasting; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000628:therapy*; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D033581:Stem Cell Transplantation / Q000379:methods; D016896:Treatment Outcome
chemical_list: D003543:Cysteamine