TY  - JOUR
T1  - Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease
TT  - Sistinozis Hastalarının Değerlendirilmesi ve Kronik Böbrek Hastalığı İlişkili Faktörler
AU  - Avcı, Begüm
AU  - Parmaksız, Gönül
PY  - 2023
DA  - August
Y2  - 2023
DO  - 10.36516/jocass.1335966
JF  - Journal of Cukurova Anesthesia and Surgical Sciences
JO  - J Cukurova Anesth Surg
PB  - Merthan TUNAY
WT  - DergiPark
SN  - 2667-498X
SP  - 308
EP  - 312
VL  - 6
IS  - 2
LA  - en
AB  - Introduction: Cystinosis is a rare genetic, lysosomal storage disorder, leading to kidney involvement and other organs. The most critical factor determining the prognosis is its impact on the kidneys especially nephropatic cystinosis. This study aimed to evaluate cystinosis patients and identify factors associated with chronic kidney disease (CKD).Methods: The medical records of 18 nephropatic cystinosis patients were retrospectively reviewed. Demographic and clinical features, prognosis were evaluated. Patients were classified according to their estimated glomerular filtration rate (eGFR) at last visit as eGFR60 ml/min/1.73 m2, and were compared for CKD related factors.Results: The mean age at diagnosis was 46.61±50.42 months. The most common allel was c. 451A>G. Polyuria, polydipsia, vomiting, growth retardation, and renal osteodystrophy were typical presenting symptoms. At diagnosis, the mean eGFR was 72.94±21.69 ml/min/1.73 m². After an average follow-up of 68.28±60.18 months, the mean eGFR was 63.97±23.59 ml/min/1.73 m², and CKD was observed in 44.4% of patients, and 5 (27.8%) underwent kidney replacement theraphy (KRT). In patients with GFR
KW  - cystinosis
KW  - kidney
KW  - children
N2  - Giriş: Sistinozis, nadir görülen genetik bir lizozomal depo hastalığı olup, başta böbrekler olmak üzere diğer organları da etkiler. Prognozu belirleyen en önemli faktör, özellikle nefropatik sistinoziste böbrek tutulumudur. Bu çalışma, sistinozis hastalarının klinik, laboratuvar ve prognozlarının değerlendirilmesini ve kronik böbrek hastalığı (KBH) ile ilişkili faktörleri belirlemeyi amaçlamıştır.Yöntemler: Onsekiz nefropatik sistinozis hastasının kayıtları retrospektif incelendi. Hastaların demografik ve klinik özellikleri, prognozları değerlendirildi. Hastalar, son vizitteki tahmini glomerüler filtrasyon oranına (eGFR) göre eGFR 60 ml/dak/1.73 m² olarak sınıflandırıldı ve gruplar, KBH ile ilişkili faktörler açısından istatistiksel olarak karşılaştırıldı.Bulgular: Ortalama tanı yaşı 46.61±50.42 aydı. En yaygın alel c.451A>G idi. Poliüri, polidipsi, kusma, büyüme geriliği ve renal osteodistrofi tipik klinik bulgulardı. Tanı anında ortalama eGFR 72.94±21.69 ml/dak/1.73 m² idi. Ortalama 68.28±60.18 ay takip süresinden sonra, ortalama eGFR 63.97±23.59 ml/dak/1.73 m² idi ve hastaların %44.4'ünde KBH gözlendi ve 5'i (%27.8) böbrek replasman tedavisi aldı. GFR
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UR  - https://doi.org/10.36516/jocass.1335966
L1  - https://dergipark.org.tr/en/download/article-file/3300811
ER  -