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Case Reports
. 2002 Nov 9:3:8.
doi: 10.1186/1471-2369-3-8.

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

Mehul P Dixit  1 , Ira Greifer
Affiliations
Case Reports

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

Mehul P Dixit et al. BMC Nephrol. .

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.

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Figures

Figure 1
Figure 1
Electron microscopy picture of the myocardium with the interstitium showing cystine rectangular crystal (× 15,000).
Figure 2
Figure 2
Myocardium with the interstitial histiocytes with rectangular cystine crystal.
See this image and copyright information in PMC

References

    1. Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, Thoene JG, Noonan PK, Berry KA. Recent advances in the treatment of cystinosis. J Inherit Metab Dis. 1995;18:387–97. - PubMed
    1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–21. doi: 10.1056/NEJMra020552. - DOI - PubMed
    1. Kashtan CE, McEnery PT, Tejani A, Stablein DM. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol. 1995;9:679–84. - PubMed
    1. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319–24. - PubMed
    1. Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. CTNS mutations in African American patients with cystinosis. Mol Genet Metab. 2001;74:332–7. doi: 10.1006/mgme.2001.3218. - DOI - PubMed

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