OBJECTIVES: Fabry disease (FD) is a rare disease associated with sphingolipid accumulation. Sphingolipids are components of plasma membranes that are important in podocyte function and accumulate in various glomerular diseases such as focal segmental glomerulosclerosis (FSGS). Both FD and FSGS can cause podocyte damage and are classified as podocytopathies. In this respect, FD and FSGS share the same pathophysiologic pathways. Previous screening studies have shown that a significant proportion of end-stage renal disease (ESRD) patients receiving hemodialysis (HD) have unsuspected FD, and the prevalence of low alpha-galactosidase A (αGLA) enzyme activity in these patients is higher than that in the normal population. We aimed to compare αGLA enzyme activity in patients with biopsy-proven FSGS and ESRD receiving HD. METHODS: The records of 232 patients [62 FSGS (F/M: 33/29); 170 HD (M/F: 93/79)] were evaluated retrospectively. The screening was performed based on the αGLA enzyme activity on a dried blood spot, with the confirmation of plasma LysoGb3 levels, and the known GLA mutations were tested in patients with low enzyme activities. The two groups were compared using these parameters. RESULTS: The mean level of αGLA enzyme activity was found to be lower in FSGS patients than in the HD group (2.88±1.2 μmol/L/h versus 3.79±1.9 μmol/L/h, p<0.001). There was no significant relationship between the two groups with regard to the plasma LysoGb3 levels (2.2±1.22 ng/ml versus 1.7±0.66 ng/ml, p: 0.4). In the analysis of GLA mutations, a D313Y mutation [C(937G>T) in exon p] was found in one patient from the FSGS group. CONCLUSIONS: We found that αGAL activity in patients with FSGS is lower than that in patients undergoing HD. The low enzyme activity in patients with FSGS may be explained by considering the similar pathogenesis of FSGS and FD, which may also lead to sphingolipid deposition and podocyte injury.

OBJECTIVES: Progressive renal disease is characterized by histological changes in the kidney and fibrosis is a common outcome. Renal biopsy is the only diagnostic tool to evaluate these histopathological changes. Pentraxin-2 (PTX-2) is an anti-inflammatory constitutive plasma protein associated with the innate immune system. Recently, as a biomarker, the circulating level of PTX-2 is shown to be decreased in chronic fibrotic diseases. In this study, we aimed to investigate the relationship between renal fibrosis severity and serum PTX-2 levels in patients undergoing renal biopsy. METHODS: This cross-sectional study included 45 patients and 16 healthy individuals (HIs). The severity of renal fibrosis was evaluated according to the Banff and Sethi scoring systems by the same pathologist. PTX-2 was measured by an enzyme-linked immunosorbent assay and compared with the demographical, clinical, biochemical, and histopathological data of the patients and HIs. RESULTS: PTX-2 levels were lower in the biopsy group than in the HI group (p=0.12). Patients with moderate renal fibrosis had significantly lower serum PTX-2 levels than those in patients with minimal and mild fibrosis (p=0.017 and p=0.010, respectively). PTX-2 concentrations were correlated with serum albumin (r=0.30, p=0.016), and were negatively correlated with serum creatinine levels (rho=-0.42, p=0.01) and body mass index (r=-0.32, p=0.011). CONCLUSIONS: The results indicated that PTX-2 levels are significantly lower in patients with renal fibrosis than HIs, and declining further in patients with severe fibrosis.

OBJECTIVES: The goal of this study was to evaluate the relationship between serum albumin levels and 24-hour ambulatory blood pressure monitoring (24-h ABPM) recordings in non-diabetic essential hypertensive patients. METHODS: A total of 354 patients (mean [SD] age: 55.5 [14.3] years, 50% females) with essential hypertension and 24-h ABPM recordings were included. Patient 24-h nighttime and daytime ABPM values, systolic and diastolic dipping status and average nocturnal dipping were recorded. The correlations between serum albumin levels and nocturnal systolic and diastolic dipping were evaluated, and correlates of average nocturnal systolic dipping were determined via a linear regression model. RESULTS: Overall, 73.2% of patients were determined to be non-dippers. The mean (SD) levels of serum albumin (4.2 [0.3] g/dL vs. 4.4 [0.4] g/dL, p<0.001) and the average nocturnal systolic (15.2 [4.8] mmHg vs. 0.3 [6.6] mmHg, p<0.001) and diastolic dipping (4.2 [8.6] mmHg vs. 18.9 [7.0] mmHg, p<0.001) were significantly lower in non-dippers than in dippers. A significant positive correlation was noted between serum albumin levels and both systolic (r=0.297, p<0.001) and diastolic dipping (r=0.265, p<0.001). The linear regression analysis revealed that for each one-unit increase in serum albumin, the average nocturnal dip in systolic BP increased by 0.17 mmHg (p=0.033). CONCLUSION: Our findings indicate an association between serum albumin levels and the deterioration of circadian BP rhythm among essential hypertensive patients along with the identification of a non-dipper pattern in more than two-thirds of patients. Our findings emphasize the importance of serum albumin levels, rather than urinary albumin excretion, as an independent predictor of nocturnal systolic dipping, at least in non-diabetic essential hypertensive patients with moderate proteinuria.

Background: Cardiac arrhythmias can be a part of cardiovascular involvement in some rheumatic diseases, but data about familial Mediterranean fever (FMF) are conflicting. Aim: To search for abnormalities in ventricular repolarization indices in FMF patients. Patients and Methods: Seventy seven FMF patients and 30 age/gender comparable healthy controls were included. All patients were attack free and subjects with disease or drugs that are known to alter cardiac electrophysiology were excluded. Electrocardiographic data were obtained and analyzed. Results: Twelve FMF patients had amyloidosis. QT and QTc intervals were within the normal ranges and similar between FMF patients and healthy controls. QT dispersion, peak to end interval of T wave (Tpe), Tpe/QT and Tpe/QTc ratios were significantly higher in FMF patients than in healthy controls. Patients with amyloidosis had significantly higher QT dispersion, Tpe, Tpe/QT and Tpe/QTc than their counterparts without FMF. Levels of proteinuria were moderately correlated with QT dispersion, Tpe, Tpe/QT and Tpe/QTc. Conclusions: FMF patients may have an increased risk for arrhythmias.

Antecedentes: Las arritmias cardíacas pueden ser parte del compromiso cardíaco en enfermedades reumáticas, sin embargo, no se sabe con certeza si esto ocurre en la fiebre mediterránea familiar (FMF). Objetivo: Buscar anomalías en la repolarización ventricular en pacientes con FMF. Pacientes y Métodos: Sesenta y siete pacientes como FMF y 30 controles sanos pareados por edad y género fueron estudiados. Todos los pacientes estaban en período intercrítico y no usaban medicamentos o tenían enfermedades concomitantes que pudieran causar anomalías electrocardiográficas. Se analizaron los electrocardiogramas de estos participantes. Resultados: Veinte pacientes con FMF tenían amiloidosis. Los intervalos QT y QTc eran normales y similares entre pacientes y controles. La dispersión del intervalo QT, el intervalo desde el peak al final de la onda T (Tpe), las razones Tpe/QT y Tpe/QTc fueron significativamente más altos en los pacientes que en los controles. Los pacientes con amiloidosis tenían una dispersión de QT, Tpe, Tpe/QT y Tpe/QTc mayores que sus pares sin la condición. Los niveles de proteinuria se correlacionaron moderadamente con los parámetros antes mencionados. Conclusiones: Los pacientes con FMF tienen mayor riesgo de arritmias.

OBJECTIVES: To evaluate the clinical outcomes and identify the predictors of mortality in elderly patients undergoing peritoneal dialysis. METHODS: We conducted a retrospective study including all incident peritoneal dialysis cases in patients ≥65 years of age treated from 2001 to 2014. Demographic and clinical data on the initiation of peritoneal dialysis and the clinical events during the study period were collected. Infectious complications were recorded. Overall and technique survival rates were analyzed. RESULTS: Fifty-eight patients who began peritoneal dialysis during the study period were considered for analysis, and 50 of these patients were included in the final analysis. Peritoneal dialysis exchanges were performed by another person for 65% of the patients, whereas 79.9% of patients preferred to perform the peritoneal dialysis themselves. Peritonitis and catheter exit site/tunnel infection incidences were 20.4±16.3 and 24.6±17.4 patient-months, respectively. During the follow-up period, 40 patients were withdrawn from peritoneal dialysis. Causes of death included peritonitis and/or sepsis (50%) and cardiovascular events (30%). The mean patient survival time was 38.9±4.3 months, and the survival rates were 78.8%, 66.8%, 50.9% and 19.5% at 1, 2, 3 and 4 years after peritoneal dialysis initiation, respectively. Advanced age, the presence of additional diseases, increased episodes of peritonitis, the use of continuous ambulatory peritoneal dialysis, and low albumin levels and daily urine volumes (<100 ml) at the initiation of peritoneal dialysis were predictors of mortality. The mean technique survival duration was 61.7±5.2 months. The technique survival rates were 97.9%, 90.6%, 81.5% and 71% at 1, 2, 3 and 4 years, respectively. None of the factors analyzed were predictors of technique survival. CONCLUSIONS: Mortality was higher in elderly patients. Factors affecting mortality in elderly patients included advanced age, the presence of comorbid diseases, increased episodes of peritonitis, use of continuous ambulatory peritoneal dialysis, and low albumin levels and daily urine volumes (<100 ml) at the initiation of peritoneal dialysis.

OBJECTIVE: The objective of this study was to examine the effects of angiotensin-converting enzyme inhibitors on peritoneal membrane transport, peritoneal protein loss, and proteinuria in peritoneal dialysis patients. METHODS: Fifty-four peritoneal dialysis patients were included in the study. The patients were divided into two groups. Group 1 (n = 34) was treated with angiotensin-converting enzyme inhibitors. Group 2 (n = 20) did not receive any antihypertensive drugs during the entire follow-up. Eleven patients were excluded from the study thereafter. Thus, a total of 30 patients in Group 1 and 13 patients in Group 2 completed the study. We observed the patients for six months. Group 1 patients received maximal doses of angiotensin-converting enzyme inhibitors for six months. Parameters at the beginning of study and at the end of six months were evaluated. RESULTS: At the end of six months, total peritoneal protein loss in 24-hour dialysate effluent was significantly decreased in Group 1, whereas it was increased in Group 2. Compared to the baseline level, peritoneal albumin loss in 24-hour dialysate effluent and 4-hour D/P creatinine were significantly increased in Group 2 but were not significantly changed in Group 1. A covariance analysis between the groups revealed a significant difference only in the decreased amount of total protein loss in 24-hour dialysate. Proteinuria was decreased significantly in Group 1. CONCLUSION: This study suggests that angiotensin-converting enzyme inhibitors reduce peritoneal protein loss and small-solute transport and effectively protect peritoneal membrane transport in peritoneal dialysis patients.

Aim: The aim of this study is to investigate the mortality and the factors which may affect it in patients who were transferred to peritoneal dialysis (PD) from hemodialysis (HD), compared to patients assigned to PD as first-line therapy. Material and Methods: A total of 322 patients treated with PD between 2001 and 2010 were evaluated retrospectively. Twenty three patients were excluded and the data of remaining 299 patients (167F, mean follow up time 38.5±26.8 months, mean age 44.7±15.9 years) were evaluated. Patients were separated into two groups according to their HD history. Group 1 and group 2 consisted of patients with (n=48) and without (n=251) a history of prior HD, respectively. Socio-demographic characteristics such as who helped administer the PD and the preference of patients (compulsory vs their preference) were obtained from the patient records. The clinical data obtained during the last clinical evaluation before the initiation of PD (blood pressure, daily urine volumes, daily ultrafiltration amounts and laboratory parameters) were recorded. Additional systemic diseases and information about the etiologies of the end stage renal disease (ESRD) of all patients were recorded. Frequencies of the infectious complications were recorded. Patient and technique survival were investigated and compared between groups. Results: In group 1, the patients were older and had less urine amounts (p=0.028 and 0.041 respectively). Thirty five patients (70%) and 25 patients (9.3%) have been transferred to PD due to vascular problems in group 1 and 2, respectively (p<0.001). In group 1, 37 (74%) patients were carrying out PD treatment by themselves, compared to 222 (88.4%) patients in group 2 (p=0.016). Incidences of peritonitis and catheter exit site/tunnel infection attacks were found 24.9±26.8 and 27.2±26.5 patient-months in group 1, and 27.4±22.4 and 33.4±24.5 patient-months in group 2, respectively (p=0.50 and 0.12). In group 1, twenty three patients have death and 2 patients have discontinued the treatment due to transplantation. In group 2, 174 patients have discontinued the treatment (55 patients have died, 80 patients have been switched to hemodialysis and 39 patients have received renal transplantation). There were significant differences between groups according to the last condition (p<0.001). Mean patient survival were found 22.9±4.2 and 55.5±2.8 patient-months in group 1 and group 2, respectively. The patient survival rates by Kaplan-Meier analysis were 50%, 40.9%, 27.3% and 9.1% at 1, 2, 3, and 4 years in group 1 and 90.9%, 81.6%, 73.9%, 64.9% and 53.1% at 1, 2, 3, 4 and 5 years in group 2, respectively. The mortality rate is higher in patients who have undergone HD before PD compared without HD history (log rank:<0.001). In the Cox proportional hazards model analysis, preference of PD (RR: 7.72, p<0.001), presence of diabetes (RR: 2.26, p=0.01), pretreatment serum albumin level (RR: 0.37, p<0.001) and catheter exit size infection attacks (RR:0.34, p=0.01) were identified as predictors of mortality. Conclusion: Our data show that mortality in patients transferred to PD from HD was higher than in patients undergoing PD as first-line therapy. Compulsory choice such as vascular access problems and social factors were the most important causes of increasing mortality in patients transferred to PD from HD.

Objetivo: El presente estudio pretende analizar la mortalidad y los factores que pueden influir en ella en los pacientes que pasan de la hemodiálisis (HD) a la diálisis peritoneal (DP), en comparación con los pacientes a los que se les prescribe DP como tratamiento de elección. Materiales y método: Se evaluaron retrospectivamente 322 pacientes tratados con DP entre 2001 y 2010. Fueron excluidos del estudio 23 pacientes y se evaluaron los datos de los 299 restantes (167 mujeres, tiempo medio de seguimiento: 38,5 ± 26,8 meses; edad media: 44,7 ± 15,9 años). Se formaron dos grupos de pacientes en función de su historial de HD. El grupo 1 y el grupo 2 incluían, respectivamente, a pacientes con (n = 48) y sin (n = 251) historial de HD previa. Las características sociodemográficas como quién colaboraba en la administración de la DP y la preferencia de los pacientes (obligatoria frente a elegida) se recogieron de los historiales de los pacientes. Se registraron los datos clínicos obtenidos durante la última evaluación clínica antes de comenzar con la DP (presión arterial, volúmenes de orina diarios, cantidad de líquido ultrafiltrado diario y parámetros analíticos). Se procedió de igual manera con otras enfermedades sistémicas e información sobre la etiología de la enfermedad renal de etapa terminal (ERET). Se hizo constar la frecuencia de las complicaciones infecciosas y se investigó la supervivencia de los pacientes y de la técnica, comparándose entre los grupos. Resultados: En el grupo 1, los pacientes eran de mayor edad y las cantidades de orina eran inferiores (p = 0,028 y 0,041 respectivamente). Treinta y cinco pacientes (70%) del grupo 1 y 25 (9,3%) del grupo 2 cambiaron a DP debido a problemas vasculares (p < 0,001). En el grupo 1, 37 pacientes (74%) se sometían a tratamiento de DP realizado por ellos mismos, comparado con los 222 pacientes (88,4%) del grupo 2 (p = 0,016). Las incidencias de peritonitis y de infección del orificio de salida y del túnel del catéter peritoneal fueron de 24,9 ± 26,8 y 27,2 ± 26,5 pacientes-mes en el grupo 1 y de 27,4 ± 22,4 y 33,4 ± 24,5 pacientes-mes en el grupo 2 (p = 0,50 y 0,12, respectivamente). En el grupo 1, fallecieron 23 pacientes y otros 2 suspendieron el tratamiento debido a un transplante. En el grupo 2, 174 abandonaron el tratamiento: 55 fallecieron, 80 cambiaron a hemodiálisis y 39 fueron sometidos a transplante renal, con importantes diferencias entre los dos grupos en función de esta última causa (p < 0,001). La supervivencia media de los pacientes fue de 22,9 ± 4,2 y 55,5 ± 2,8 pacientes-mes en el grupo 1 y grupo 2, respectivamente. Las tasas de supervivencia de los pacientes según los análisis de Kaplan-Meier fueron de 50%, 40,9%, 27,3% y 9,1% a los 1, 2, 3, y 4 años en el grupo 1 y de 90,9%, 81,6%, 73,9%, 64,9% y 53,1% a los 1, 2, 3, 4 y 5 años en el grupo 2. La tasa de mortalidad fue mayor en pacientes que se habían sometido a HD antes de la DP que en los pacientes que no tenían historial de HD (log rank < 0,001). En el análisis de los modelos de riesgos proporcionales de Cox, se identificaron la preferencia de DP (RR: 7,72, p < 0,001), la presencia de diabetes (RR: 2,26, p = 0.01), los niveles de albúmina sérica previos al tratamiento (RR: 0,37, p < 0,0001) y las infecciones del orificio de salida del catéter peritoneal (RR: 0,34, p = 0,01) como predictores de mortalidad. Conclusión: Los datos de nuestro estudio demuestran que la mortalidad en pacientes que cambian de HD a DP fue mayor que en los pacientes que recibían DP como tratamiento de elección. Las causas de la obligatoriedad del tratamiento como los problemas de acceso vascular y los factores sociales fueron las más importantes a la hora de aumentar la mortalidad en pacientes que cambiaron de HD a DP.