Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
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 nephrop...
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doaj-acccc5b39bb04a9a809111338365731c2020-11-24T22:28:19ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602018-03-01610.3389/fped.2018.00058343521Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic DiseaseSören Bäumner0Lutz T. Weber1Pediatric Nephrology, Children’s and Adolescents’ Hospital, University Hospital Cologne, Cologne, GermanyPediatric Nephrology, Children’s and Adolescents’ Hospital, University Hospital Cologne, Cologne, GermanyCystinosis 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.http://journal.frontiersin.org/article/10.3389/fped.2018.00058/fullnephropathic cystinosiscysteaminerenal Fanconi syndromeCTNS genehematopoietic stem cell therapy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sören Bäumner Lutz T. Weber |
spellingShingle |
Sören Bäumner Lutz T. Weber Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease Frontiers in Pediatrics nephropathic cystinosis cysteamine renal Fanconi syndrome CTNS gene hematopoietic stem cell therapy |
author_facet |
Sören Bäumner Lutz T. Weber |
author_sort |
Sören Bäumner |
title |
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |
title_short |
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |
title_full |
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |
title_fullStr |
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |
title_full_unstemmed |
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease |
title_sort |
nephropathic cystinosis: symptoms, treatment, and perspectives of a systemic disease |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Pediatrics |
issn |
2296-2360 |
publishDate |
2018-03-01 |
description |
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. |
topic |
nephropathic cystinosis cysteamine renal Fanconi syndrome CTNS gene hematopoietic stem cell therapy |
url |
http://journal.frontiersin.org/article/10.3389/fped.2018.00058/full |
work_keys_str_mv |
AT sorenbaumner nephropathiccystinosissymptomstreatmentandperspectivesofasystemicdisease AT lutztweber nephropathiccystinosissymptomstreatmentandperspectivesofasystemicdisease |
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