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.


METHODS
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.
Dixit
Mehul P
MP
Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA. mdixit@peds.arizona.edu
Greifer
Ira
I
D017541:Aneurysm, False / Q000209:etiology*; D009202:Cardiomyopathies / Q000150:complications*; D002648:Child; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006801:Humans; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications*; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D009206:Myocardium / Q000473:pathology*; D010493:Pericarditis / Q000209:etiology; D012078:Renal Artery Obstruction / Q000209:etiology; D012422:Rupture, Spontaneous
D003553:Cystine