Nephropathic cystinosis: pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Nephropathic cystinosis: pathology. This is caused by mutations in the CTNS geneq. The gene encodes cystinosin. Fully referenced neurology checklist.
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
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References
- 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.
- Cabrera-Serrano M, Junckerstorff RC, Alisheri A, et al. Cystinosis distal myopathy, novel clinical, pathological and genetic features. Neuromuscul Disord 2017; 27:873-878.
- Bäumner S, Weber LT. Nephropathic cystinosis: symptoms, treatment, and perspectives of a systemic disease. Front Pediatr 2018; 6:58.
