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Dergiler / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 4

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

HALİSE NESLİHAN ÖNENLİ MUNGAN
BERNA ŞEKER YILMAZ
Ali Kemal TOPALOĞLU
Bilgin YÜKSEL
Ali ANARAT
Gülay CEYLANER
Aytül NOYAN
DENİZ KOR
Aysun KARABAY-BAYAZIT
NURCAN CENGİZ
Sevgi YAVUZ
Sayfa
362–370
DOI
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Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.

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Amaç & Hipotez:Önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA.
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Temel Bulgular & Veri:Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment.
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Sonuç & Katkı:Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.
🔬Tür:Araştırma Makalesi
📍Kapsam:2016 Verileri
⚙️Değişkenler:Alan Parametreleri

Özet

Önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A>G, 7 patients with homozygous c.681G>A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A>G/ c.1015G>A. The c.834_842del mutation identified in six patients from four families has not been previously identified.Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.

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Bu Makaleye Atıf Yap

MUNGAN, H. N. Ö., YILMAZ, B. Ş., TOPALOĞLU, A. K., YÜKSEL, B., ANARAT, A., CEYLANER, G., NOYAN, A., KOR, D., KARABAY-BAYAZIT, A., CENGİZ, N., YAVUZ, S. (2016). Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 4, 362–370. https://ajindex.com/articles/412234

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Kaynakça (15)

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