Prevalence of Fabry disease among Turkish dialysis patients: Data from hemodialysis centers in Bursa province.

BACKGROUND: Detection of potential Fabry disease patients before appearance of life-threatening findings is of great importance, particularly in high-risk populations. This study was designed to determine prevalence of Fabry disease among Turkish patients undergoing peritoneal dialysis and hemodialysis for chronic renal failure (CRF). METHODS: A total of 1,527 patients (mean (SD) age: 60.2 (14.2) years, 55.5% were males) on hemodialysis (n = 1,435) or peritoneal dialysis (n = 92) for CRF were included in this multicenter study conducted at 17 dialysis centers across Bursa province, Turkey. Prevalence of the disease was determined using combined enzymatic and genetic strategy with measuring the activity of α-galactosidase A (α-Gal A) and Sanger sequence analysis based genotyping in α-galactosidase A gene (GLA) in dried blood samples (DBS). RESULTS: Overall α-Gal A activity was determined to be below the reference value in 130 (8.5%) of 1,527 patients. GLA genotyping confirmed the diagnosis of Fabry disease in 5 (0.3%) patients with low α-Gal A activity. All Fabry-positive patients were males corresponding to a 0.6% prevalence of disease in this gender. CONCLUSION: In conclusion, our findings, which were based on the use of DBS for both enzymatic activity and genotyping analyses, revealed the diagnosis of Fabry disease in 5 males corresponding to overall 0.3% prevalence of disease in the cohort and 0.6% prevalence among males. Our results support the likelihood of unrecognized Fabry disease in a nonnegligible number of patients on dialysis and thus emphasize the value of screening studies in terms of detection of new cases and improved prognosis of the disease via early diagnosis and treatment.

Ki-67 proliferation index in renal biopsy samples of patients with systemic lupus erythematosus and its correlation with clinical findings.

INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease that may affect almost all organ systems. Renal involvement is the most significant prognostic factor. Renal biopsy findings play an important role in treatment decision. Ki-67 is a monoclonal antibody that is only found in proliferative cells. This study aimed to investigate the proliferative activity in renal biopsy specimens of patients with lupus nephritis using the Ki-67 monoclonal antibody, and to compare the proliferative index between different subgroups of patients. MATERIALS AND METHODS: Renal biopsy specimens of 29 patients with systemic lupus erythematosus were retrospectively evaluated. Type of lupus nephritis and activity and chronicity indexes were determined. Ki-67 immunostaining was performed. For each patient, 1000 cells were counted and the number of Ki-67 positive cells was determined. The Ki-67 activity index was compared between different subgroups of lupus nephritis and correlated with systemic lupus erythematosus disease activity index, serum creatinine, proteinuria, anticardiolipin antibodies, and complement levels. RESULTS: A positive correlation between Ki-67 proliferation index, serum creatinine levels, and systemic lupus erythematosus disease activity index were found. Although conventional activity indexes were low, in 3 of 9 patients with class II lupus nephritis, Ki-67 proliferation indexes were high, indicating proliferation. CONCLUSIONS: Ki-67 can be used as a proliferation marker in renal biopsy specimens for patients diagnosed with systemic lupus erythematosus.

Tumor necrosis factor-alpha antagonist therapy-induced psoriasis in Turkey: analysis of 514 patients.

OBJECTIVES: New adverse events are being reported with the increased use of anti-tumor necrosis factor (TNF) α therapy. We studied cases of anti-TNFα-induced psoriasis observed in our pool of 514 patients receiving anti-TNFα treatment in Turkey. METHODS: Three rheumatoid arthritis patients and 3 ankylosing spondylitis patients with anti-TNFα-induced psoriasis were included in the study. All patients were examined by a dermatologist, and 3 patients underwent skin biopsy. RESULTS: None of the 6 patients had preexisting psoriasis or a familial history of psoriasis. The earliest and latest occurrences of psoriatic lesions were at the 6th week and 44th month of anti-TNFα therapy, respectively. Psoriasis was severe and refractory in two patients (requiring systemic treatment), while it presented as mild in four patients. Anti-TNFα therapy was totally withdrawn in case 1. In case 2, the treatment was halted for 3 months then switched to another TNFα blocker, and case 3 was switched to another anti-TNFα treatment. The treatment was sustained in the other 3 patients (cases 4, 5, and 6). CONCLUSIONS: TNFα blockers are very effective agents in the treatment of psoriasis, but it is interesting that the same molecules can, paradoxically, induce psoriasis. The occurrence of anti-TNFα-induced psoriasis in six out of 514 patients suggests that the incidence of this adverse reaction is, in fact, as not low as presumed in the literature. In some cases, a severe course of psoriasis may limit the use of these agents.

Paraoxonase activity in glomerulonephritic patients.

BACKGROUND: Cardiovascular disease is the most common cause of morbidity and mortality in patients with chronic renal failure. Glomerulonephritic patients have an increased risk for cardiovascular disease, but its etiology is unclear. It is known that an increase in oxidizability of apolipoprotein B-containing lipoproteins has a key role in the initiation of atherosclerosis, and paraoxonase enzyme activity particularly has a preventive role against atherosclerosis. The aim of the present study was to evaluate the oxidizability of apolipoprotein B-containing lipoproteins, serum, and urinary paraoxonase/arylesterase activities in glomerulonephritis patients who had normal lipid parameters and creatinine levels. METHODS: Thirty-two patients with glomerulonephritis and 22 healthy controls were included in this study. A total of 32 patients (including nine with membranous GN, eight with immunoglobulin A nephropathy, eight with mesangial proliferative GN, five with focal-segmental glomerulosclerosis, one with diffuse proliferative GN, and one with minimal chance disease having biopsy proven GN) were enrolled into the study. We compared serum and urinary paraoxonase, arylesterase, serum lipids, urea, creatinine, hemoglobin, total protein and albumin values between groups. RESULTS: Serum urea, creatinine, total protein, albumin, uric acid, hemoglobin, and lipid parameters were similar in the glomerulonephritis and control groups (p > 0.05). PON1 activity was significantly lower in GN group than controls, but there was no statistically significant difference on arylesterase activity between groups. Oxidizability of apolipoprotein B-containing lipoproteins was significantly higher in GN group than controls. CONCLUSION: Our study shows that the findings of normal serum levels of creatinine, lipids, and proteins increased the oxidizability of apolipoprotein B-containing lipoproteins, and any decrease in PON1 activity in patients diagnosed with GN should be considered important. Hence, the immediate commencement of preventive as well as curative treatment in other to avoid the risk of cardiovascular and renal problems would be a correct approach.

Laparoscopic findings of peritoneal dialysis catheter malfunction and management outcomes.

OBJECTIVE: Peritoneal dialysis catheter malfunction is a common complication forcing conversion to hemodialysis. The purpose of this study was to evaluate laparoscopic findings of catheter malfunction and to establish a relationship between those findings and the outcomes of procedures performed. DESIGN: Retrospective study. SETTING: A tertiary referral center. PATIENTS: 40 consecutive patients with stage 5 chronic kidney disease underwent 46 laparoscopic correction procedures for the treatment of peritoneal dialysis catheter malfunction between November 1994 and August 2004. MAIN OUTCOME MEASURES: Laparoscopic findings of catheter malfunction, procedures performed, catheter survival, and recurrent cases were evaluated. RESULTS: There were 28 tip migrations in 40 patients; 16 were without adhesions and 10 were associated with omental adhesions. Reposition and adhesiolysis were the most frequent procedures performed. Malfunction recurred in 12 patients and 5 of them underwent 6 secondary laparoscopic procedures. Estimated mean catheter survival was 19.9 +/-3.32 months (%95 confidence interval 13.43 - 26.46). CONCLUSIONS: The most frequent laparoscopic finding was catheter tip migration, with or without adhesions. Laparoscopic repositioning and adhesiolysis without omentectomy are simple and effective procedures that can prolong catheter survival, even in recurrent malfunctions.

Serum levels of prostate-specific antigen and vitamin D in peritoneal dialysis patients.

Measuring the free:total ratio of prostate-specific antigen (f/t-PSA) can improve the specificity of single-serum PSA values, distinguishing between benign prostatic hyperplasia (BPH) and prostatic carcinoma (PCa) in men over the age of 50. Additionally, clinical trials have shown that dihydroxyvitamin D3 can slow the rate of PSA rise in PCa patients. However, little is known regarding the applicability of those findings in men undergoing chronic peritoneal dialysis (CPD). In the present study, we investigated the prevalence of increased serum PSA levels among CPD patients and correlated those values with serum levels of vitamin D [25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3]. We undertook a cross-sectional study of 71 male CPD patients without a known history of prostate cancer from 24 centers in Canada, Greece, and Turkey. All of the patients were more than 50 years of age. In these patients, we measured serum concentrations of PSA, free PSA (f-PSA), total PSA (t-PSA), prostate alkaline phosphatase (PAP), 25-hydroxyvitamin D3, 1,25-dihydroxyvitamin D3, and intact parathyroid hormone (iPTH). We recorded serum PSA levels < 4 ng/mL in 62 patients (87.3%, group A) and levels > 4 ng/mL in 9 patients (12.7%, group B). The f/t-PSA ratio was < 0.25 in 16 patients (22.5%). Group B patients were older than those in group A (median: 73 years vs. 65 years, p < 0.01) and had a lower body weight (median: 66.5 kg vs. 76.7 kg, p < 0.05). We observed no statistically significant difference between the two groups for serum 1,25-dihydroxyvitamin D3 (median: 9.8 ng/mL vs. 10.1 ng/mL) or 25-hydroxyvitamin D3 (8 ng/mL vs. 8.2 ng/mL) levels. Also, we observed no correlation between vitamin D levels and f/t-PSA, but iPTH levels were significantly higher in group A (200.5 pg/mL vs. 61.2 pg/mL, p < 0.04). Also, serum PAP levels correlated significantly with PSA (r = 0.49, p = 0.01) and with f-PSA (r = 0.56, p = 0.000). Our results showed no clear relationship between vitamin D and serum levels of PSA or-of f/t-PSA in PD patients. However, further studies are needed to better define the uses of these PSA markers in PD patients because, in such patients, other relevant factors might be implicated in their predictive value.

Behçet's disease and renal failure.

BACKGROUND: The aims of this study were (i) to investigate the prevalence of Behçet's disease (BD) among dialysis patients in Turkey, (ii) to report the clinical characteristics of patients with BD and end-stage renal disease (ESRD), (iii) to evaluate the effect of ESRD on course and activity of BD and (iv) to analyse the published data about BD and renal failure. METHODS: A questionnaire investigating BD among dialysis patients was submitted to 350 dialysis centres and we obtained the data for 20 596 patients from 331 dialysis centres. We submitted a second questionnaire regarding clinical characteristics of the patients with BD and ESRD. The PubMed and Web of Science databases were used for the analysis of BD and renal failure. RESULTS: Fourteen patients with BD were determined and the prevalence of BD was 0.07% among 20 596 dialysis patients in Turkey. None of the patients has had a new manifestation of BD after initiation of haemodialysis treatment. The analysis of previous data about renal BD demonstrated 67 patients with renal failure. CONCLUSIONS: The most common cause of renal failure in BD is amyloidosis. Routine urine analysis and measurement of serum creatinine and blood urea nitrogen levels are needed for early diagnosis. Vascular access-related problems are common and the activity of BD appears to decrease in patients with ESRD after initiation of haemodialysis.

Long-term effects of losartan on proteinuria and renal function in patients with renal amyloidosis.

OBJECTIVE: To investigate the effect of the angiotensin II receptor antagonist losartan on proteinuria in secondary amyloidosis cases. MATERIAL AND METHODS: Sixteen patients with renal biopsy-proven AA amyloidosis with proteinuria were included in the study. All the patients had received colchicine treatment for at least 18 months. The patients were divided into two groups with similar age and gender distributions. Eight patients were given losartan at a dose of 50 mg/day for 12 months and the other 8 patients served as controls. Mean arterial blood pressure, proteinuria, serum albumin level and renal function were determined at the initiation of the study and after 1 and 12 months. RESULTS: There were no significant differences in proteinuria, serum albumin level, renal function or mean arterial blood pressure at the initiation of the study. In the losartan group daily proteinuria decreased significantly from 5.2 +/- 0.7 g at the initiation of the study to 3.9 +/- 1.2 g at 1 month and 3.6 +/- 0.8 g at 12 months, while in the control group it changed from 4.6 +/- 1.0 g to 4.7 +/- 1.0 g and 6.1 +/- 1.2 g, respectively. The increment at 12 months was significant. After 12 months of treatment with losartan, proteinuria was significantly lower in comparison to the degree of proteinuria in the control group. Serum albumin level increased significantly in the losartan group but was unchanged in the control group. In the control group, creatinine clearance showed a significant decrease. There was no significant difference in mean arterial blood pressure measurements, serum creatinine levels, total protein, albumin and creatinine clearance levels between the two groups. CONCLUSIONS: Losartan seemed to prevent an increase in proteinuria without altering the creatinine clearance level in patients with amyloidosis type AA during a 12-month period. This indicates that losartan may be used to decrease proteinuria in this patient group. However, our results are only preliminary and need to be confirmed by larger studies.