Renal Cystinosis: Review of 10 Cases

Backgrounds and Cystinosis presents with renal and extrarenal manifestations. The aim of this study is to review the clinical presentations of children who diagnosed as cystinosis during the last 10 years in Children’s Hospital of Tabriz. In this case series study، medical records of 10 children with cystinosis were evaluated. Their physical findings and laboratory data were collected and expressed using descriptive statistic analysis. The mean age of patients at the time of diagnosis was 24 months and they reached to end stage renal failure at mean age of 95 months، it was diagnosed as early as 9th months by corneal examination. Hypercalciuria was present in half of our patients but urolithiasis was not found in any patient. Subclinical hypothyroidism was detected in 5 years of old and frank hypothyroidsm occured simultaneously with end stage renal failure in all of patients. Cystinosis is a rare disease in our area. Cystinosis can be diagnosed earlier by ophthalmologic examination. Subclinical hypothyroidism and hypercalciuria are common in cystinosis as we found in our study.