Infantile Nephropathic Cystinosis: A Novel CTNS Mutation/Infantil Nefropatik Sistinozis: CTNS Geninde Yeni Bir Mutasyon

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 Sistinozis, lizozomlarda sistin birikimi ile karakterize olan ve otozomal resesif kalitilan nadir bir metabolik hastalik olup tasiyici proteini CTNS geni tarafindan kodlanan bir bozukluktan kaynaklanir. Infantil nefropatik sistinozis (INS) sistinozisin ana komplikasyonlarindan birisidir. Bu klinik durum yasamin ilk yilinda renal Fankoni sendromunun bulgulari ile karakterizedir. Biz burada renal Fankoni sendromunun bulgulari ile prezente olan ve INS tanisi konulan iki hasta sunuyor ve CTNS geninde yeni bir mutasyon bildiriyoruz. Anahtar Kelimeler: Nefropatik sistinozis, genetik degerlendirme, cocuklar