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

BMC Nephrology

Ira Greifer²  Mehul P Dixit¹ 

[1] Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA;Division of Nephrology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, USA

关键词: Long term survivor;    Pseudoaneurysm;    Cardiomyopathy;    Renal transplant;    Nephropathic cystinosis;   

Others  :  1083459
DOI  :  10.1186/1471-2369-3-8

 received in 2002-07-11, accepted in 2002-11-09,  发布年份 2002

【 摘 要 】

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.

【 授权许可】

   
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.

【 图 表 】

Figure 1.

Figure 2.

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