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. 2011 Jun;34(3):811-8.
doi: 10.1007/s10545-011-9281-0. Epub 2011 Feb 9.

Non-invasive measurements of atherosclerosis in adult cystinosis patients

Martine T P Besouw  1 , Suzanne Holewijn, Elena N Levtchenko, Mirian C H Janssen
Affiliations

Non-invasive measurements of atherosclerosis in adult cystinosis patients

Martine T P Besouw et al. J Inherit Metab Dis. 2011 Jun.

Abstract

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.

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Figures

Fig. 1
Fig. 1
cIMT and PWV values classified by CKD stage. a: Mean total cIMT values classified by CKD stage. b: PWV classified by CKD stage. The bars indicate the normal range for that particular CKD stage. Both cIMT and PWV values are within or below the normal range when corrected for CKD stage
Fig. 2
Fig. 2
Effect of cysteamine and lipid-lowering medication on NIMA. Effect of adequate cysteamine treatment, indicated by mean WBC cystine levels < 1 nmol cystine/mg protein, on cIMT (a), PWV (b) and AI (c). There is no clear effect of WBC cystine levels on cIMT. PWV and PWA measurements were conducted in only one patient with high WBC cystine levels, she showed a clearly increased AI. Effect of lipid-lowering medication on cIMT (d), PWV (e) and AI (f). There is no clear difference between cIMT and PWV values of patients who take lipid-lowering medication, compared to those who do not. The three patients with an increased AI did not take any lipid-lowering medication
See this image and copyright information in PMC

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