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Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation

Masako Ueda^*, Kevin O’Brien^*,, Douglas R. Rosing, Alexander Ling, Robert Kleta^*,, Dorothea McAreavey, Isa Bernardini^*, and William A. Gahl^*

^* Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Intramural Office of Rare Diseases, Office of the Director, Cardiology Consultation Service, National Heart, Lung, and Blood Institute, and Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland

Address correspondence to: Dr. William A. Gahl, 10 Center Drive, MSC 1851, Building 10, Room 10C-103, NHGRI, NIH, Bethesda, MD 20892-1851. Phone: 301-402-2739; Fax: 301-402-2740; E-mail: bgahl{at}helix.nih.gov

Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. Treatment with cysteamine decreases cellular cystine levels, retards renal deterioration, and allows for normal growth. Patients with a history of inadequate cystine depletion therapy may survive, after renal transplantation, into the third to fifth decades but will experience other, extrarenal complications of the disease. Routine chest and head computed tomography scans of 41 posttransplantation patients with cystinosis were reviewed for vascular calcification. The radiologic procedures had been performed to examine lung and brain parenchyma, so there was little ascertainment bias. Thirteen of the 41 patients had vascular calcification, including 11 with coronary artery calcification. One 25-yr-old man required three-vessel coronary artery bypass graft surgery. There were no significant differences between the 13 patients with calcification and the 28 without calcification in the following parameters: Time on dialysis, frequency of transplantation, hypertension, hypercholesterolemia, homozygosity for the 57-kb deletion in CTNS, serum creatinine, and calcium-phosphate product. However, the finding of vascular calcification correlated directly with duration of life without cysteamine therapy and inversely with duration of life under good cystine-depleting therapy. The accumulation of intracellular cystine itself maybe a risk factor for vascular calcifications, and older patients with cystinosis should be screened for this complication.