Nephropathic cystinosis: an update on genetic conditioning.
Clinical features
Cystinosis
Disparities
Genetics
Geographic regions
Management
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
received:
24
12
2019
accepted:
02
06
2020
revised:
24
04
2020
pubmed:
22
6
2020
medline:
12
2
2022
entrez:
22
6
2020
Statut:
ppublish
Résumé
Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. The CTNS gene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm. In cases of cystinosin deficiency, free cystine accumulates in lysosomes and forms toxic crystals that lead to tissue and organ damage. Since CTNS gene mutations were first described, many variations have been identified that vary according to geographic region, although the phenotype remains the same. Cystinosis is a hereditary disease that can be treated with the cystine-depleting agent cysteamine. Cysteamine slows organ deterioration, but cannot treat renal Fanconi syndrome or prevent eventual kidney failure; therefore, novel treatment modalities for cystinosis are of great interest to researchers. The present review aims to highlight the geographic differences in cystinosis-specifically in terms of its genetic aspects, clinical features, management, and long-term complications.
Identifiants
pubmed: 32564281
doi: 10.1007/s00467-020-04638-9
pii: 10.1007/s00467-020-04638-9
doi:
Substances chimiques
Amino Acid Transport Systems, Neutral
0
Cystine
48TCX9A1VT
Cysteamine
5UX2SD1KE2
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1347-1352Références
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