Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives

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 addressing complications in organs other than the kidneys, in addition to coordinating referrals to clinicians within the nephrology clinic (e.g., nurses, advanced practice providers, pharmacists, dietitians, social workers, care coordinators, and transplant specialists) and across multiple specialties (e.g., neurologists, gastroenterologists, endocrinologists, ophthalmologists, and orthopedists). Although recently published expert guidance offers recommendations for the multidisciplinary management of cystinosis, gaps in the literature exist around strategies to reduce care fragmentation, overcome collaboration challenges, and enhance patient/family and clinician experiences. This review aimed to explore various approaches for care delivery optimization across the lifespan of patients with cystinosis as well as improve the current understanding of disease-, patient-, provider-, and system-related factors that influence treatment adherence, engagement, and long-term outcomes.