Stephanie Cherqui, PhD, from the University of California, San Diego shares her insights into our current understanding of cystinosis.
Cystinosis is a rare lysosomal storage disorder characterized by the accumulation of cystine in various organs, including the kidneys, eyes, muscles, pancreas, and brain. The condition is due to mutations in the CTNS gene.
As Dr. Cherqui explains in this interview, early symptoms can begin around 6 – 12 months of age with developmental delays, rickets, and most notably, kidney problems. Another common problem is the accumulation of cystine crystal in the eyes that can require hourly eye drops to properly manage. Dr. Cherqui also notes that since all cells will have cystine accumulation in this rare disease, any organ can be impacted.
To stay informed about this and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
