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WOS: 000392937800028 PubMed ID: 28006774 Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of a-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed a-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fa bry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin. (C) 2016 The Author(s) Published by S. Karger AG, Basel Sanofi Genzyme Corporation; Intensificacion ISCIII and REDINREN [RD012/0021] We are indebted to our patients and their families for volunteering to contribute their medical information to the physicians who are dedicated to their care. This work was supported by grants from Sanofi Genzyme Corporation. The lead investigator had full access to all data in the study. All investigators take responsibility for the accuracy of the individual data that they entered in the system provided by FMF Arthritis Vasculitis and Orphan disease Research (FAVOR). AO was supported by Intensificacion ISCIII and REDINREN RD012/0021.

Background/Aims: Atherosclerosis and inflammation are the most important risk factors in the pathogenesis of cardiovascular diseases (CVD) in patients with end-stage renal disease (ESRD). Pentraxin-3 (PTX-3) was shown to predict inflammation and atherosclerosis in ESRD patients. However, the role of renal transplantation (Rtx) in terms of atherogenesis is still unclear. We aimed to investigate the relationship between PTX-3, neutrophil-to-lymphocyte ratio (NLR), and carotid intima-media thickness (CIMT) in Rtx patients and healthy controls. Methods: This was a cross-sectional study involving 29 Rtx patients (12 females, 40.1 ± 11.9 years) without overt CVD and 19 healthy subjects (9 females, 36.9 ± 8.9 years), testing the relationship between CIMT, assessed by ultrasonography, and selected biomarkers. Results: CIMT, PTX-3, and high-sensitivity C-reactive protein (hs-CRP) levels of Rtx patients were found to be significantly higher compared to healthy subjects. CIMT was positively correlated with age, creatinine, uric acid, triglyceride, PTX-3, hs-CRP, and NLR, and negatively correlated with estimated glomerular filtration rate in all participants. In Rtx patients, CIMT was positively correlated with age, BMI, serum phosphorus, low-density lipoprotein, and hs-CRP. The multivariate analysis revealed that hs-CRP was found to be an independent variable of CIMT in Rtx patients. Conclusion: Our data showed that inflammation and atherosclerosis persist in Rtx patients. Serum hs-CRP might be a useful marker to assess these parameters in this population.

WOS: 000312167700006, PubMed: 22493602, Background: Atherosclerosis, endothelial dysfunction, coronary artery calcification (CAC), and left ventricular hypertrophy are the most commonly encountered risk factors in the pathogenesis of cardiovascular disease in end-stage renal disease patients. Epicardial adipose tissue (EAT) is the true visceral fat depot of the heart. The relationship between coronary artery disease and EAT has been shown in healthy subjects and patients with a high risk of coronary artery disease. In the present study, we aimed to investigate the relationship between EAT and CAC in peritoneal dialysis (PD) patients. Patients and Methods: Forty-five PD patients (18 females, 27 males, with a mean age of 50.6 +/- 15 years) and 25 healthy subjects (12 females, 13 males, with a mean age of 52.4 +/- 10.7 years) were enrolled in the study. EAT and CAC score (CACS) measurements were performed by a multidetector computed tomography scanner. Results: EAT of the PD patients was significantly higher than that of the healthy subjects (p = 0.02). When patients were divided into two subgroups (group 1: CACS 10, n = 25), EAT was also significantly higher in group 2 patients than in group 1 patients and healthy subjects. Age and EAT were also found to be correlated with CACS >= 10. Conclusion: There is a relationship between the anatomic assessment of coronary artery lesions by multidetector computed tomography and EAT in PD patients. This relationship might be attributed to increased inflammation and proinflammatory cytokines in uremic patients. copyright (C) 2012 S. Karger AG, Basel