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Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up

BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. CASE REPORT: We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent mul...

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Detalles Bibliográficos
Autores principales: Dixit, Mehul P, Greifer, Ira
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC137602/
https://www.ncbi.nlm.nih.gov/pubmed/12425721
http://dx.doi.org/10.1186/1471-2369-3-8
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author Dixit, Mehul P
Greifer, Ira
author_facet Dixit, Mehul P
Greifer, Ira
author_sort Dixit, Mehul P
collection PubMed
description BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. CASE REPORT: We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years. His death from a ruptured pseudoaneurysm associated with a restrictive cardiomyopathy is noteworthy. A limited cardiac autopsy revealed the presence of cystine crystals in interstitial cardiac histiocytes and one myocardial cell, along with 1000-fold higher tissue cystine content of the left ventricular myocardium compared to patients without cystinosis, suggesting the possibility of direct cystine mediated metabolic injury.
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spelling pubmed-1376022002-12-08 Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up Dixit, Mehul P Greifer, Ira BMC Nephrol Case Report BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. CASE REPORT: We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years. His death from a ruptured pseudoaneurysm associated with a restrictive cardiomyopathy is noteworthy. A limited cardiac autopsy revealed the presence of cystine crystals in interstitial cardiac histiocytes and one myocardial cell, along with 1000-fold higher tissue cystine content of the left ventricular myocardium compared to patients without cystinosis, suggesting the possibility of direct cystine mediated metabolic injury. BioMed Central 2002-11-09 /pmc/articles/PMC137602/ /pubmed/12425721 http://dx.doi.org/10.1186/1471-2369-3-8 Text en Copyright © 2002 Dixit and Greifer; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
spellingShingle Case Report
Dixit, Mehul P
Greifer, Ira
Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title_full Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title_fullStr Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title_full_unstemmed Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title_short Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
title_sort nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC137602/
https://www.ncbi.nlm.nih.gov/pubmed/12425721
http://dx.doi.org/10.1186/1471-2369-3-8
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