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Cystinosis: the evolution of a treatable disease

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease...

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Detalles Bibliográficos
Autores principales: Nesterova, Galina, Gahl, William A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505515/
https://www.ncbi.nlm.nih.gov/pubmed/22903658
http://dx.doi.org/10.1007/s00467-012-2242-5
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author Nesterova, Galina
Gahl, William A.
author_facet Nesterova, Galina
Gahl, William A.
author_sort Nesterova, Galina
collection PubMed
description Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder’s systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.
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spelling pubmed-35055152012-11-28 Cystinosis: the evolution of a treatable disease Nesterova, Galina Gahl, William A. Pediatr Nephrol Educational Review Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder’s systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients. Springer-Verlag 2012-08-18 2013-01 /pmc/articles/PMC3505515/ /pubmed/22903658 http://dx.doi.org/10.1007/s00467-012-2242-5 Text en © IPNA 2012 2012
spellingShingle Educational Review
Nesterova, Galina
Gahl, William A.
Cystinosis: the evolution of a treatable disease
title Cystinosis: the evolution of a treatable disease
title_full Cystinosis: the evolution of a treatable disease
title_fullStr Cystinosis: the evolution of a treatable disease
title_full_unstemmed Cystinosis: the evolution of a treatable disease
title_short Cystinosis: the evolution of a treatable disease
title_sort cystinosis: the evolution of a treatable disease
topic Educational Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505515/
https://www.ncbi.nlm.nih.gov/pubmed/22903658
http://dx.doi.org/10.1007/s00467-012-2242-5
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