Özet:

Objective: Nephropathic cystinosis is the most severe form of cystinosis and usually leads to end stage renal disease in late childhood. We aimed to investigate the clinical and laboratory findings, therapeutic and diagnostic difficulties and prognosis of patients with nephropathic cystinosis.Material and Methods: The medical records of fifteen patients who were diagnosed as cystinosis between 1996 and 2012 were retrospectively evaluated. Results: The mean age of the patients was 31.8±35.9 months (6-144 months). 11 (73.3 %) had parental consanguinity. Polyuria, polydipsia and failure to thrive were the most common features. Mean glomerular filtration rate (GFR) was 47.6±29.9 ml/min/1.73 m2 at admission. Corneal cystine crystals were detected in 12 (80 %) of the patients. We measured leukocyte cysteine levels in only three patients and found it above normal limits. During follow up, 10 patients developed chronic kidney disease (CKD) and three of them reached end-stage renal disease (ESRD). Two of the patients were lost to follow up.Conclusion: There are still many technical and financial problems in the diagnosis and management of cystinosis in our country. Efforts should therefore be directed towards the avoidance of consanguineous marriages to decrease the incidence of the disease

Anahtar Kelimeler: