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Non‐invasive measurements of atherosclerosis in adult cystinosis patients
Author(s) -
Besouw Martine T. P.,
Holewijn Suzanne,
Levtchenko Ele.,
Janssen Mirian C. H.
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9281-0
Subject(s) - cystinosis , cysteamine , cystine , medicine , pulse wave velocity , renal function , arterial stiffness , intima media thickness , endocrinology , kidney disease , gastroenterology , urology , cardiology , blood pressure , chemistry , carotid arteries , biochemistry , cysteine , enzyme
Background Cystinosis is characterized by intralysosomal cystine accumulation, causing end stage renal disease around 10 years of age if not treated with cysteamine. Cystine accumulation in blood vessels might increase atheroma formation or arterial stiffness and therefore increase the risk for cardiovascular disease (CVD). This study aimed to investigate the risk for CVD by non‐invasive measures of atherosclerosis (NIMA) and to evaluate the effect of cysteamine treatment. Patients and methods Thirteen Dutch adult cystinosis patients were included. White blood cell (WBC) cystine levels, glomerular filtration rate (GFR) and concommitant medications were obtained from medical records. NIMA included carotid intima‐media thickness (cIMT, n = 13), pulse wave velocity (PWV, n = 8) and pulse wave analysis (PWA, n = 6). Results GFR ranged between 4‐95 mL/min/1.73 m². All but one patient were treated with cysteamine, mean WBC cystine values ranged between 0.34‐1.64 nmol cystine/mg protein, 8 patients had mean WBC cystine levels <1 nmol cystine/mg protein. When compared to healthy subjects, cIMT and PWV levels were above normal values in 1 patient for each measure. PWA measurements showed high augmentation index in three patients who did not receive lipid‐lowering medication. When corrected for renal function, cIMT and PWV levels were within the normal range. Conclusion Young adult cystinosis patients treated with cysteamine have no additional risk for CVD when compared to patients with chronic kidney disease of other causes.