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Infantile nephropathic cystinosis

Amira Peco-Antić1, Mirjana Kostić, Radovan Bogdanović

  • 1University Children's Hospital, Belgrade, Serbia. amira@udk.bg.ac.rs

Srpski Arhiv Za Celokupno Lekarstvo
|October 11, 2011
PubMed

Insights

Infantile nephropathic cystinosis (INC) is rare in Serbian children with end-stage renal disease (ESRD). Diagnosis delays were noted, impacting long-term outcomes despite kidney transplants.

Area of Science:

  • Pediatric Nephrology
  • Metabolic Disorders
  • Genetic Diseases

Background:

  • Infantile nephropathic cystinosis (INC) is a lysosomal storage disorder.
  • It results from impaired cystine transport, leading to cellular accumulation.
  • This metabolic defect affects multiple organs, including the kidneys.

Purpose of the Study:

  • To determine the prevalence of INC in Serbian pediatric end-stage renal disease (ESRD) patients.
  • To describe the clinical features, treatment, and outcomes of INC in this population.
  • To provide an updated perspective on INC in Serbia.

Main Methods:

  • Retrospective analysis of the Serbian Paediatric Renal Replacement Therapy (RRT) database.
  • Inclusion criteria: patients with INC who started RRT before age 19 (1980-2008).
  • Evaluation of clinical data, therapies, and patient outcomes.

Main Results:

  • INC prevalence was low: 3 out of 298 pediatric ESRD patients (1%).
  • Diagnosis of cystinosis was delayed (mean 6 years) despite early infantile symptoms and Fanconi syndrome.
  • All patients received kidney transplants; long-term outcomes varied, with one patient on dialysis due to graft failure and two with good graft function but growth retardation.

Conclusions:

  • Infantile nephropathic cystinosis is uncommon in Serbian pediatric ESRD patients.
  • Delayed diagnosis of cystinosis is a significant issue, even with typical disease presentation.
  • Early diagnosis and management are crucial for improving long-term outcomes in INC.
Abstract

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