Koenraad R Veys1, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko. 1. 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.
Abstract
PURPOSE OF REVIEW: 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. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis. SUMMARY: 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.
PURPOSE OF REVIEW: 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. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis. SUMMARY: The development of alternative therapeutic monitoring strategies and new systemic and ocular cysteamine formulations might improve outcome of cystinosispatients 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: Pablo Florenzano; Macarena Jimenez; Carlos R Ferreira; Galina Nesterova; Mary Scott Roberts; Sri Harsha Tella; Luis Fernandez de Castro; Rachel I Gafni; Myles Wolf; Harald Jüppner; Barbara Gales; Katherine Wesseling-Perry; Daniela Markovich; William A Gahl; Isidro B Salusky; Michael T Collins Journal: J Am Soc Nephrol Date: 2020-07-06 Impact factor: 10.121
Authors: Francesco Bellomo; Ester De Leo; Anna Taranta; Laura Giaquinto; Gianna Di Giovamberardino; Sandro Montefusco; Laura Rita Rega; Anna Pastore; Diego Luis Medina; Diego Di Bernardo; Maria Antonietta De Matteis; Francesco Emma Journal: Int J Mol Sci Date: 2021-11-27 Impact factor: 5.923