Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.

ABSTRACT: Nephropathic cystinosis is a rare lysosomal storage disorder characterized by cellular cystine accumulation and progressive multiorgan damage. Before advances in diagnostics, transplantation, and disease-modifying therapy, cystinosis was considered a fatal pediatric disease, with most patients reaching kidney failure by approximately 10 years of age. Life expectancy has now expanded into the 50s and beyond, and the disease has been transformed into a chronic condition with a predominantly extrarenal phenotype in adulthood. Traditionally, nephrologists have played a central role as cystinosis "care quarterbacks" in pediatric settings, and patients often expect this to continue after transitioning to adult care. As such, nephrologists are increasingly tasked with monitoring for and addressin

SUBMITTER: Golestaneh L 

PROVIDER: S-EPMC12828517 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature