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Article

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Clinical journal of the American Society of Nephrology : CJASN - 1 Jan 2008

Servais Aude, Morinière Vincent, Grünfeld Jean-Pierre, Noël Laure-Hélène, Goujon Jean-Michel, Chadefaux-Vekemans Bernadette, Antignac Corinne

Abstract excerpt

BACKGROUND AND OBJECTIVES: Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of onset: infantile cystinosis, characterized by renal proximal tubulopathy and progression to end-stage renal disease...

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Identifiers

PMID: 18178779
DOI: 10.2215/CJN.01740407
PMCID: PMC2390982

Genes

CTNS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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