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Pediatric Nephrology

Erschienen in:

01.06.2008 | Review

Nephropathic cystinosis: late complications of a multisystemic disease

verfasst von: Galina Nesterova, William Gahl

Erschienen in: Pediatric Nephrology | Ausgabe 6/2008

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Abstract

Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder’s systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.

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Titel: Nephropathic cystinosis: late complications of a multisystemic disease
verfasst von: Galina Nesterova
William Gahl
Publikationsdatum: 01.06.2008
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 6/2008
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0650-8

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Nephropathic cystinosis: late complications of a multisystemic disease

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