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Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up
1Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA. mdixit@peds.arizona.edu
Insights
Nephropathic cystinosis, a rare genetic disorder, can lead to severe heart failure and death, even after kidney transplants. Autopsy revealed cystine crystals in the heart, suggesting direct metabolic injury.
Area of Science:
- Nephrology
- Genetics
- Cardiology
Background:
- Nephropathic cystinosis is a rare autosomal recessive disorder.
- Characterized by intracellular cystine accumulation, leading to multi-organ failure.
Observation:
- A patient with nephropathic cystinosis was followed from age six to 33.
- Experienced multiple surgeries, including two renal transplants, and developed transplant renal artery stenosis.
- Progressive heart failure culminated in death at age 33 due to a ruptured pseudoaneurysm and restrictive cardiomyopathy.
Findings:
- Limited cardiac autopsy revealed cystine crystals in cardiac cells.
- Left ventricular myocardium showed a 1000-fold increase in cystine content compared to controls.
- Suggests direct cystine-mediated metabolic injury contributing to cardiac pathology.
Implications:
- Highlights the potential for severe cardiac complications in nephropathic cystinosis.
- Underscores the importance of monitoring cardiac function in affected individuals.
- Suggests cystine accumulation may directly damage cardiac tissue, impacting long-term outcomes.
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.