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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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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2002
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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. |
format | Text |
id | pubmed-137602 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2002 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT dixitmehulp nephropathiccystinosisassociatedwithcardiomyopathya27yearclinicalfollowup AT greiferira nephropathiccystinosisassociatedwithcardiomyopathya27yearclinicalfollowup |