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Cysteamine toxicity in patients with cystinosis

  • Martine T.P. Besouw
  • , Richard Bowker
  • , Jean Paul Dutertre
  • , Francesco Emma
  • , William A. Gahl
  • , Marcella Greco
  • , Marc R. Lilien
  • , John McKiernan
  • , Franois Nobili
  • , Jerry A. Schneider
  • , Flemming Skovby
  • , Lambertus P. Van Den Heuvel
  • , William G. Van'T Hoff
  • , Elena N. Levtchenko*
  • *Corresponding author for this work
  • KU Leuven
  • University Hospitals of Derby and Burton NHS Foundation Trust
  • Orphan Europe
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • National Institutes of Health
  • Utrecht University
  • University College Cork
  • Université de Franche-Comté
  • University of California at San Diego
  • University of Copenhagen
  • Radboud University Nijmegen
  • University College London

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Objective: To report new adverse effects of cysteamine. Study design: Detailed clinical information was obtained from the patients' physicians. Results: New adverse events were reported in 8 of 550 patients with cystinosis treated with cysteamine in Europe during the last 5 years. Detailed clinical information was not available for 2 of these patients, 1 of whom died from cerebral ischemia. The 6 evaluable patients developed vascular elbow lesions (6/6), neurologic symptoms (1/6), bone and muscle pain (2/6), and/or skin striae (2/6). Analysis of biopsy specimens from the elbow lesions demonstrated angioendotheliomatosis with irregular collagen fibers. In 3 of the 6 patients, the daily cysteamine dose exceeded the recommended maximum of 1.95 g/m 2/day. Dose reduction led to improvement of signs and symptoms in all 6 patients, suggesting a causal relationship with cysteamine administration. Conclusion: Cysteamine administration can be complicated by the development of skin, vascular, neurologic, muscular, and bone lesions. These lesions improve after cysteamine dose reduction. Doses >1.95 g/m 2/day should be prescribed with great caution, but underdosing is not advocated.

Original languageEnglish
Pages (from-to)1004-1011
Number of pages8
JournalJournal of pediatrics
Volume159
Issue number6
DOIs
Publication statusPublished - Dec 2011
Externally publishedYes

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