ESPN 51th Annual Meeting

ESPN 2018


 
Nephropathic cystinosis: Tunisian experience
ABIR BOUSSETTA YOSRA HAMMI MERIEM FERJANI ONS NAIJA CHOKRI ZARROUK MANEL JELLOULI TAHER GARGAH

 
Introduction:

 

Cystinosis is a rare autosomal-recessive lysosomal storage disease. Three clinical forms are recognized, the most severe and frequent one is termed infantile nephropathic cystinosis. The aim of this study was to report the Tunisian experience of nephropathic cystinosis.

Material and methods:

 

This retrospective study was conducted in the department of pediatrics in Charles Nicolle hospital during a period of 20 years (1997-2017). We identified thirteen cases of nephropathic cystinosis.

Results:

 

Diagnosed patients included 7 boys and 6 girls. The mean age of onset of symptoms was 7.6 months (2 - 14 months). The mean age at diagnosis was 3.5 years (7 months - 6 years). Slit lamp examination showed corneal cystine crystal deposits pathognomonic of nephropathic cystinosis in 11 patients, retinopathy was already present in two cases. Ten patients had hypothyroidism. Cystinosis diagnosis was confirmed by the measurement of leukocyte cystine levels in two cases, genetic analysis of the CTNS gene in one patient and by the demonstration of corneal cystine crystals in the other cases. Eleven patients received cysteamine treatment. The mean age at start of cysteamine therapy was 3.6 years (8 months- 13 years). The average age of chronic renal failure was 3.57 years. The mean age at onset of end stage renal disease was 5.87 years. At last follow up, eight patients had chronic renal failure, three patients died, one patient received a renal graft and one patient is lost sight of.

Conclusions:

 

In developing countries, the diagnosis of nephropathic cystinosis is often made at a late stage because of the lack or no availability of diagnostic tools and thus results in delayed treatment. Renal transplantation has transformed cystinosis from a fatal pediatric disease into a treatable one.