Nephropathic cystinosis: pathology

Evidence-based neurology checklist on nephropathic cystinosis: pathology: Genetics This is caused by mutations in the CTNS geneq The gene encodes cystinosin The mutation results in cystine accumulation in tissues The transmission is autosomal recessive Classification

Genetics

  • This is caused by mutations in the CTNS geneq
  • The gene encodes cystinosin
  • The mutation results in cystine accumulation in tissues
  • The transmission is autosomal recessive

Classification

References

  1. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 2007; 147:242-250.
  2. Cabrera-Serrano M, Junckerstorff RC, Alisheri A, et al. Cystinosis distal myopathy, novel clinical, pathological and genetic features. Neuromuscul Disord 2017; 27:873-878. 
  3. Bäumner S, Weber LT. Nephropathic cystinosis: symptoms, treatment, and perspectives of a systemic disease. Front Pediatr 2018; 6:58.

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