title: Infantile nephropathic cystinosis.
abstract: BACKGROUND
  Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes.
  
  
  OBJECTIVE
  To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease.
  
  
  METHODS
  ESRD database of the Centre for Paediatric Renal Replacement Therapy (RRT) in Serbia was used to identify all patients with INC who started RRT before age of 19 years during the period January 1980 - December 2008; their records concerning clinical characteristics, therapy and outcome were evaluated.
  
  
  RESULTS
  Only three of 298 paediatric patients with ESRD had INC. The first signs of the illness were recognised during infancy. Fancony syndrome was diagnosed in the second year, but the diagnosis of cystinosis was delayed at mean 6 years. ESRD occurred in the first decade of life. All patients underwent cadaver kidney transplantation. At the end of the study period all patients were alive. A 31-year-old female patient was on maintenance chemodialysis due to graft failure after functioning for 11 years. She was growth retarded, single, unemployed, with severe signs of renal dystrophy. Two male patients (14.3 and 14.7 years old) had normal graft function, normal education, and good quality of life, although they were also severe growth retarded.
  
  
  CONCLUSIONS
  The prevalence of infantile nephropathic cystinosis is low in Serbia. The diagnosis of cystinosis was delayed in all patients, although they exhibited the typical course of the disease.
authors: University Children's Hospital, Belgrade, Serbia. amira@udk.bg.ac.rs
authors: Amira
authors: A
authors: Peco-Antić
authors: Mirjana
authors: M
authors: Kostić
authors: Radovan
authors: R
authors: Bogdanović
authors: Brankica
authors: B
authors: Spasojević
authors: Maja
authors: M
authors: Djordjević
authors: Dusan
authors: D
authors: Paripović
authors: Dragana
authors: D
authors: Kovacević
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003554:Cystinosis / Q000150:complications* / Q000175:diagnosis; D005198:Fanconi Syndrome / Q000209:etiology; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D055815:Young Adult