Particularity of nephrotic Cystinosis in Tunisian children

Abstract

Cystinosis is a rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Untreated cases progress to end stage renal disease later in the first decade. The aim of this study was to describe the outcome of our patients with cystinosis. This retrospective study was conducted in the department of pediatrics in Charles Nicolle and La Rabta hospitals during a period of 25 years (1990-2014). We identified eight cases of nephropathic cystinosis. Diagnosed patients included 5 boys and 3 girls. The mean age of onset of symptoms was 6.37 months. The mean age at diagnosis was 4 years. Slit lamp examination showed corneal cystine crystal deposits in 7 patients. Seven patients had hypothyroidism. Six patients received cysteamine treatment. Conclusion: Means of diagnosis should be instituted in our country to treat disease earlier.