Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
| Autor: | Lutz T. Weber, Sören Bäumner |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Systemic disease medicine.medical_specialty Photophobia 030232 urology & nephrology Cystine Pediatrics Gastroenterology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Nephropathic Cystinosis Internal medicine cysteamine medicine business.industry lcsh:RJ1-570 Fanconi syndrome lcsh:Pediatrics CTNS gene medicine.disease renal Fanconi syndrome hematopoietic stem cell therapy Transplantation 030104 developmental biology chemistry Pediatrics Perinatology and Child Health Cystinosis nephropathic cystinosis Cysteamine Systematic Review medicine.symptom business |
| Zdroj: | Frontiers in Pediatrics Frontiers in Pediatrics, Vol 6 (2018) |
| ISSN: | 2296-2360 |
| Popis: | Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cystinosis. Mostly, first symptom in infantile nephropathic cystinosis is renal Fanconi syndrome that occurs within the first year of life. Another prominent symptom is photophobia due to corneal crystal deposition. Cystine depletion therapy with cysteamine delays end-stage renal failure but does not stop progression of the disease. A new cysteamine formulation with delayed-release simplifies the administration schedule but still does not cure cystinosis. Even long-term depletion treatment resulting in bypassing the defective lysosomal transporter cannot reverse Fanconi syndrome. A future perspective offering a curative therapy may be transplantation of CTNS-carrying stem cells that has successfully been performed in mice. |
| Databáze: | OpenAIRE |
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