Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

Introduction: Cystinosis is a rare genetic, lysosomal storage disorder, leading to kidney involvement and other organs. The most critical factor determining the prognosis its impact on kidneys especially nephropatic cystinosis. This study aimed evaluate cystinosis patients identify factors associated with chronic disease (CKD).
 Methods: medical records of 18 were retrospectively reviewed. Demographic clinical features, evaluated. Patients classified according their estimated glomerular filtration rate (eGFR) at last visit as eGFR60 ml/min/1.73 m2, compared for CKD related factors.
 Results: mean age diagnosis was 46.61±50.42 months. common allel c. 451A>G. Polyuria, polydipsia, vomiting, growth retardation, renal osteodystrophy typical presenting symptoms. At diagnosis, eGFR 72.94±21.69 m². After an average follow-up 68.28±60.18 months, 63.97±23.59 m², observed in 44.4% patients, 5 (27.8%) underwent replacement theraphy (KRT). In GFR