Evaluation of Cystinosis Patients and Factors Associated with Chronic Kidney Disease

Authors : Begüm AVCI, Gönül PARMAKSIZ

Pages : 308-312

Doi:10.36516/jocass.1335966

View : 106 | Download : 43

Publication Date : 2023-08-31

Article Type : Research Paper

Abstract :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 insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(eGFR); at last visit as eGFR 60 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 insert ignore into journalissuearticles values(27.8%); underwent kidney replacement theraphy insert ignore into journalissuearticles values(KRT);. In patients with GFR<60 ml/min/1.73 m², the initial cysteamine dose was found to be significantly lower insert ignore into journalissuearticles values(p=0.03);, while consanguinity insert ignore into journalissuearticles values(p=0.04); and family history presence insert ignore into journalissuearticles values(p=0.01);, presence of renal osteodystrophy at diagnosis and the development of rickets insert ignore into journalissuearticles values(p=0.02);, were statistically significantly higher. Conclusion: This study highlights the importance of effective cystinosis management, focusing on early diagnosis and optimal cysteamine treatment to prevent complications especially ESKD. Consanguinity and family history, accompanying rikets emerged as notable risk factors for CKD, underscoring the significance of genetic counseling and bone health monitoring.
Keywords : sistinozis, böbrek, çocuk

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