Cystinosis Diagnosis and Management Advice Service

Cystinosis is a very rare inherited lysosomal storage disease presenting in infancy (95% of cases) with severe kidney disease but subsequently involving multiple organs (eyes, thyroid, liver, diabetes, muscle deterioration). Patients often present to paediatric nephrology services although multi organ disease requires multi-speciality input. Effective drug therapy and renal transplantation has improved the life expectancy of these patients. This project comprises a provider selection process to commission adult and paediatric cystinosis services.