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, Francois Nobili, Jerry A. Schneider, Flemming Skovby, Lambertus P. van den Heuvel, William G. Van't Hoff, Elena N. Levtchenko*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

54 Citations (Scopus)

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. (J Pediatr 2011;159:1004-11).

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

Keywords

  • NEPHROPATHIC CYSTINOSIS
  • PENICILLAMINE
  • THERAPY
  • CHILDREN
  • SKIN

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