Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis.
Methods: Probands initially presented with Fanconi syndrome symptoms.
Saudi J Kidney Dis Transpl
October 2012
The use of Cyclosporin-A (CsA) has been well described and is currently recommended for use in patients with steroid dependent nephrotic syndrome (SDNS), especially when they start having steroid side effects. Over a three-year period, a total of 10 patients diagnosed as having SNDS at the King Hussein Medical Center, Amman, Jordan were retrospectively studied. Their mean age was 9.
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