Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease. Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m², 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease.

Aim: There is limited information about arterial stiffness in chronic kidney disease (CKD) which is an independent risk factor for cardiovascular events. Pulse wave velocity (PWV), augmentation index (AIx) are using to determine arterial stiffness. We aimed to study PWV, AIx, volume status in patients with stage 3B-5 CKD and continuous ambulatory peritoneal dialysis (CAPD). Methods: Sixty-six stage 3B-5 CKD patients, 21 CAPD patients, 34 healthy controls were included. Pulse wave velocity, AIx, volume status was evaluated by Mobil-O-Graph®, and bioimpedance spectroscopy, respectively. Results: The Median PWV was 7.5 m/s in CKD, 6.2 m/s in CAPD, 5.9 m/s in healthy controls, and while PWV was found to have increased significantly in CKD patients (p = 0.002), the Alx values were similar in all groups. The median extracellular fluid excess was higher in both the CKD and, CAPD patients when compared with healthy controls (1.26 and 1.21 L, respectively). Overhydration was more prevalent in CKD and CAPD patients (p < 0.001). Age, central systolic blood pressure, body mass index, fat mass, overhydration, CKD, eGFR were the major determinants of PWV. Conclusion: Increased PWV was found in stage 3B-5 CKD patients. Overhydration may contribute this increment.

Objectives Iron cardiomyopathy remains the major cause of death in β-thalassaemia major. Excessive iron loading could lead to cardiac dysfunction and arrhythmias. Reduced heart rate variability is associated with a higher risk of arrhythmia and sudden death after myocardial infarction and heart failure. Previous data have reported on reduced heart rate variability in patients with marked cardiac iron accumulation. In this study, we compared heart rate variability among β-thalassaemia major (TM) patients with or without cardiac siderosis. Methods Out of 70 β-thalassaemia major patients with preserved ejection fractions, 38 patients with cardiac T2* magnetic resonance imaging assessment were included in our study. Time domain heart rate variability parameters were analysed from 24-hour recorded electrocardiograms and were compared with the control group. Results The mean T2* magnetic resonance imaging value was 22.9 ± 13.3 (4.7–47.5). In 21 patients with β-thalassaemia major, the T2* magnetic resonance imaging values were greater than 20 ms and these patients were considered to be in the early stage of the disease. When we compare these patients with control subjects, the standard deviation of all NN intervals was still significantly lower (133.0 ± 32.2 versus 162.8 ± 32.9, p = 0.001) in β-thalassaemia major patients despite normal T2* magnetic resonance imaging values. On the contrary, the standard deviation of all NN intervals was not correlated with haemoglobin levels in these patients (p > 0.05). Conclusions Heart rate variability parameters were reduced even in β-thalassaemia major patients without evident cardiac siderosis, as specified by magnetic resonance imaging data. The results of this study show that reduction of heart rate variability may start before cardiac iron loading is demonstrated by T2* magnetic resonance imaging in β-thalassaemia major.

Introduction. The amount of interdialytic weight gain (IDWG) considering body weight is of great importance in hemodialysis patients. In general practice, patients are asked to get standard weight between two hemodialysis sessions. However, it should be individualized considering patient’s weight. We aimed to determine the association between the IDWG and the nutritional parameters, cardiovascular risk factors, and quality of life. Methods. Thrity-two patients receiving hemodialysis at least for one year were enrolled into the study. Patients were monitored for 12 consecutive hemodialysis sessions; and the arithmetic mean of IDWG was calculated. IDWG% was calculated in accordance with patients’ dry weight. Data of patients with IDWG<3% (Group I) and IDWG≥3 (Group II) were compared. Sociodemographic variables, laboratory, anthropometric measurements, blood pressure, left ventricular mass index, Subjective Global Assessment Scale and SF-36 Quality of Life Scale were applied to evaluate the patients. Results. 59.4% (n=19) and 40.6% (n=13) of patients were included in Group I and Group II, respectively. In Group II, albumin (p=0.02), potassium (p=0.02), phosphorus (p=0.04), nPCR (p=0.03), physical function (p=0.04), role limitations caused by physical problems (p=0.04), general health (p=0.03), physical quality of life (p=0.04) scores were significantly higher. A significant correlation was detected between IDWG and physical and mental quality of life, total score SF-36, albumin, total protein and the potassium values. Conclusions. Patients with an IDWG ≥ 3% have better nutritional parameters and quality of life scales. The limiting of IDWG to 1-2 kg, ingoring patient weight may give rise to malnutrition and a reduced quality of life.

Objective: Arterial stiffness refers to arterial wall rigidity, particularly developing in central vessels. Arterial stiffness increases in early stage chronic kidney disease (CKD), and it is a strong predictor of cardiovascular and all cause mortality. Vitamin D has beneficial effects on blood pressure, vascular endothelial function and arterial stiffness. 25-hydroxyvitamin D (25(OH)D) deficiency is quite common worldwide and in the CKD population. We aimed to evaluate the prevalence of 25(OH)D deficiency and its relation with arterial stiffness in CKD. Method: Our study included 101 patients (51 male, 50 female), with stages 3B-5 CKD not on dialysis. A single-cuff arteriograph device (Mobil-O-Graph) was used to evaluate arterial stiffness parameters of pulse wave velocity (PWV) and augmentation index (Alx@75). The patients were divided into two groups: group I vitamin D non-deficient [25(OH)D > 15 ng/mL] and group II vitamin D deficient [25(OH)D <= 15 ng/mL]. Results: Overall, the mean 25(OH) D level was 14.1 +/- 7.9 ng/mL and 70 patients (69.4%) were vitamin D deficient. The mean Alx@ 75 value was significantly higher in group II (28.6 +/- 10.8% vs. 23.3 +/- 13.5%, p=0.038). PWV was higher in group II, but the difference was not significant. Group II exhibited significantly lower serum albumin (p<0.001), hemoglobin (p=0.005), calcium (p=0.041) and estimated glomerular filtration rate (eGFR) (p=0.041), but significantly higher 24-hour proteinuria (p=0.011) and more females (p=0.006). Vitamin D was negatively correlated with Alx@75 augmentation pressure, parathyroid hormone, proteinuria and body mass index, and positively correlated with albumin, hemoglobin, eGFR, calcium and transferrin. 25(OH)D was independently associated with Alx@75 (beta=-0.469, p=0.001) and albumin (beta=0.447, p=0.002). Conclusion: In CKD patients 25(OH) D deficiency was common, particularly in females. Level of 25(OH)D was independently associated with Alx@75.