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

Persistent Link:
http://hdl.handle.net/10150/610062
Title:
Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
Author:
Dixit, Mehul; Greifer, Ira
Affiliation:
Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA; Division of Nephrology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, USA
Issue Date:
2002
Publisher:
BioMed Central
Citation:
BMC Nephrology 2002, 3:8 http://www.biomedcentral.com/1471-2369/3/8
Journal:
BMC Nephrology
Rights:
© 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.
Collection Information:
This item is part of the UA Faculty Publications collection. For more information this item or other items in the UA Campus Repository, contact the University of Arizona Libraries at repository@u.library.arizona.edu.
Abstract:
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.
EISSN:
1471-2369
DOI:
10.1186/1471-2369-3-8
Keywords:
Nephropathic cystinosis; Renal transplant; Cardiomyopathy; Pseudoaneurysm; Long term survivor
Version:
Final published version
Additional Links:
http://www.biomedcentral.com/1471-2369/3/8

Full metadata record

DC FieldValue Language
dc.contributor.authorDixit, Mehulen
dc.contributor.authorGreifer, Iraen
dc.date.accessioned2016-05-20T08:57:42Z-
dc.date.available2016-05-20T08:57:42Z-
dc.date.issued2002en
dc.identifier.citationBMC Nephrology 2002, 3:8 http://www.biomedcentral.com/1471-2369/3/8en
dc.identifier.doi10.1186/1471-2369-3-8en
dc.identifier.urihttp://hdl.handle.net/10150/610062-
dc.description.abstractBACKGROUND: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.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttp://www.biomedcentral.com/1471-2369/3/8en
dc.rights© 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.en
dc.subjectNephropathic cystinosisen
dc.subjectRenal transplanten
dc.subjectCardiomyopathyen
dc.subjectPseudoaneurysmen
dc.subjectLong term survivoren
dc.titleNephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-upen
dc.typeArticleen
dc.identifier.eissn1471-2369en
dc.contributor.departmentDivision of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USAen
dc.contributor.departmentDivision of Nephrology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, USAen
dc.identifier.journalBMC Nephrologyen
dc.description.collectioninformationThis item is part of the UA Faculty Publications collection. For more information this item or other items in the UA Campus Repository, contact the University of Arizona Libraries at repository@u.library.arizona.edu.en
dc.eprint.versionFinal published versionen
All Items in UA Campus Repository are protected by copyright, with all rights reserved, unless otherwise indicated.