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<p>Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by systemic cystine accumulation. Cysteamine is the only currently approved cystine-depleting therapy, available in immediate- and delayed-release (DR cysteamine) formulations. DR cysteamine contains methacrylic acid copolymer, an excipient associated with fibrosing colonopathy in patients with cystic fibrosis. Here, we report on a case of a 10-year-old girl with cystinosis who developed severe gastrointestinal symptoms following long-term treatment with DR cysteamine. Imaging and endoscopy revealed colonic stenosis, and required hemicolectomy. Histopathology showed fibrosing colonopathy characteristics with deposition of birefringent foreign material in the lumen. This case suggests a possible association between prolonged exposure to DR cysteamine and fibrosing colonopathy, highlighting the need for further investigation. Considering the potential severity of this complication, increased clinical vigilance is warranted, especially in the context of the increasing use of this formulation.</p>

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Nephropathic cystinosis: fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine

  • 期刊论文

  • 发表日期：

    2025年12月10日

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  • Benjamin Moussler,
  • Emma Wischlen,
  • Justine Bacchetta,
  • Sophie Collardeau-Frachon,
  • Chloé Grosyeux,
  • Aurélia Bertholet-Thomas

摘要

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by systemic cystine accumulation. Cysteamine is the only currently approved cystine-depleting therapy, available in immediate- and delayed-release (DR cysteamine) formulations. DR cysteamine contains methacrylic acid copolymer, an excipient associated with fibrosing colonopathy in patients with cystic fibrosis. Here, we report on a case of a 10-year-old girl with cystinosis who developed severe gastrointestinal symptoms following long-term treatment with DR cysteamine. Imaging and endoscopy revealed colonic stenosis, and required hemicolectomy. Histopathology showed fibrosing colonopathy characteristics with deposition of birefringent foreign material in the lumen. This case suggests a possible association between prolonged exposure to DR cysteamine and fibrosing colonopathy, highlighting the need for further investigation. Considering the potential severity of this complication, increased clinical vigilance is warranted, especially in the context of the increasing use of this formulation.