Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

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Döneray H., Aldahmesh M., Yılmaz G., Cinici E., Orbak Z.

EURASIAN JOURNAL OF MEDICINE, cilt.49, sa.2, ss.148-151, 2017 (ESCI, Scopus, TRDizin)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 49 Sayı: 2
• Basım Tarihi: 2017
• Doi Numarası: 10.5152/eurasianjmed.2017.17039
• Dergi Adı: EURASIAN JOURNAL OF MEDICINE
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.148-151
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Atatürk Üniversitesi Adresli: Evet

Özet

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.