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Article

Phenotypic variability in cystinosis: Lessons from an atypical case.

Nefrologia - 1 Jan 2025

Toso Diego, Furlano Monica, Tinoco Adria, Sensat Saltor Tania, Ars Elisabet, Torra Roser

Abstract excerpt

Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and multisystem involvement. In addition to symptomatic treatment, early initiation of cysteamine therapy and its strict adherence are essential to delay kidney failure and...

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Identifiers

PMID: 41005824
DOI: 10.1016/j.nefroe.2025.501342

Genes

CTNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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