Veys Koenraad R, Elmonem Mohamed A, Arcolino Fanny O, van den Heuvel Lambertus, Levtchenko Elena
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.
Curr Opin Pediatr. 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462.
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.
In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.
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.
在过去几十年里，胱氨酸病作为一种罕见的溶酶体贮积症，已发展成为一种可治疗的代谢性疾病。对其病理生理学的深入了解使胱氨酸病成为一种典型疾病，为若干基本生化和细胞过程带来了新的见解。
在本综述中，我们旨在概述胱氨酸病在发病机制、临床和治疗方面的最新进展。
替代治疗监测策略以及新型全身和眼部半胱胺制剂的开发可能在不久的将来改善胱氨酸病患者的治疗结果。随着基于干细胞的治疗和新兴基因编辑技术的出现，在寻找胱氨酸病治愈方法的过程中已经有了新的工具。
