2024/12/31 by M Jellouli., C Zarrouk., H Ben Turkia. +4
#Fanconi syndrome #children #chronic renal failure #cysteamine #cystinonis #cystinose #enfant #insuffisance rénale #syndrome de fanconi
paper · doi:10.71566/pist-rmp-194973
Cystinosis is 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. Methods: This retrospective study was conducted in the department of pediatrics in Charles Nicolle and la Rabta hospitals during a period of 13 years (1997-2009). We identified eight cases of nephropathic cystinosis. Results: 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 (7 months - 6 years). Slit lamp examination showed corneal cystine crystal deposits pathognomonic of nephropathic cystinosis in 7 patients. Seven patients had hypothoidism. Six patients received cysteamine treatment. The mean age at start of cystea- mine therapy was 5. 12 years (8 months- 13 years). The average age of chronic renal failure was 4. 5 years. The mean age at onset of end stage renal disease was 6. 37 years. At last follow up, three patients had chronic renal failure, two patients died and one patient received a renal graft. Conclusion: Means of diagnosis should be instituted in our country to treat disease earlier.