Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi' s syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi' s syndrome and describe a novel CTNS mutation.Keywords: Nephropathic cystinosis, genetic evaluation, children ÖZ Sistinozis, lizozomlarda sistin birikimi ile karakterize olan ve otozomal resesif kalıtılan nadir bir metabolik hastalık olup taşıyıcı proteini CTNS geni tarafından kodlanan bir bozukluktan kaynaklanır. İnfantil nefropatik sistinozis (İNS) sistinozisin ana komplikasyonlarından birisidir. Bu klinik durum yaşamın ilk yılında renal Fankoni sendromunun bulguları ile karakterizedir. Biz burada renal Fankoni sendromunun bulguları ile prezente olan ve İNS tanısı konulan iki hasta sunuyor ve CTNS geninde yeni bir mutasyon bildiriyoruz.
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