Pediatric Nephrology

, Volume 26, Issue 2, pp 205–215

Cystinosis: practical tools for diagnosis and treatment


  • Martijn J. Wilmer
    • Laboratory of PediatricsKatholieke Universiteit Leuven
  • Joost P. Schoeber
    • Laboratory of PediatricsKatholieke Universiteit Leuven
  • Lambertus P. van den Heuvel
    • Laboratory of PediatricsKatholieke Universiteit Leuven
    • Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory MedicineRadboud University Nijmegen Medical Centre
    • Laboratory of PediatricsKatholieke Universiteit Leuven
    • Department of Pediatric NephrologyUniversity Hospitals Leuven
Educational Review

DOI: 10.1007/s00467-010-1627-6

Cite this article as:
Wilmer, M.J., Schoeber, J.P., van den Heuvel, L.P. et al. Pediatr Nephrol (2011) 26: 205. doi:10.1007/s00467-010-1627-6


Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis.


CystinosisCystinosinRenal Fanconi syndromeProximal tubuleCysteamine

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© IPNA 2010