Correlation of the Volume Control Parameters With Health Related Quality of Life in Renal Transplant Patients.

INTRODUCTION: Transplantation is the most effective treatment strategy for end-stage renal failure. We aimed to investigate the correlation of volume control parameters with health-related quality of life (HRQoL) in renal transplantation patients during the pre- and post-transplantation periods. MATERIAL AND METHODS: Seventy-seven patients who underwent renal transplantation from deceased donors between January 2011 and January 2013 were included in the study. The biochemical markers, complete blood count, and creatinine levels were measured during pretransplantation and at post-transplantation month 6. The Turkish version of the Short Form 36 (SF-36) health survey questionnaire was used for the assessment of HRQoL. Blood pressure (BP) and echocardiographic measurements were used to evaluate the volume status. RESULTS: Significant improvements were achieved in all echocardiographic measurements, biochemical parameters except Ca(++), and SF-36 questionnaire domain scores (DSs) except vitality in the post-transplantation period. Systolic BP (SBP), the left atrium index, vena cava inferior collapsibility index (VCCI), and diastolic BP were associated with vitality (P = .02, .03, .05, and .04, respectively); SBP was associated with social functioning (P < .01) and role emotional (P < .01); and left ventricular mass index was associated with mental health (P = .05) DSs during the pretransplantation period. In the post-transplantation period, VCCI, left ventricular mass index, and SBP were associated with general health (P = .02, .05, and .05, respectively); VCCI and SBP were also associated with mental health (P = .05 and .01, respectively); and left atrium index was associated with role emotional (P = .05) DSs. CONCLUSION: Concomitant improvement in the volemic status may contribute to improvements in HRQoL after renal transplantation.

MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever (FMF), an autosomal recessively inherited autoinflammatory disorder, is caused by missense mutations in the pyrin-encoding MEFV gene. The MEFV mutations can be detected in the majority of FMF patients, but there is an important proportion of patients with the FMF phenotype who carry a single or no coding region mutation. This study aimed to investigate the promoter region and 3'-UTR polymorphisms of the MEFV gene in a group of FMF patients with no coding region mutations, to identify variations with a possible role in the regulation of MEFV expression. METHODS: The study group consisted of 289 patients with FMF and 103 ethnically-matched healthy individuals of Turkish origin. All individuals were first genotyped for the five most commonly observed mutations (M694V, M680I, V726A, E148Q and M694I). Then, the coding regions of the MEFV gene in patients carrying none of the 5 mutations were amplified and screened using single-stranded conformation polymorphism and DNA sequencing. After the exclusion of patients with mutations in exons, the promoter and 3'-UTR regions of the MEFV gene were investigated in the remainder. For the haplotype analysis, all study groups were genotyped for two of the 3'-UTR single nucleotide polymorphisms (SNP). RESULTS: Genotyping for five mutations revealed 186 patients (64.4%) with two mutations, 61 patients (21.1%) with one mutation, and 42 patients (14.5%) with no mutation. The carrier rate for healthy controls was found to be 10%. After screening all 10 exons in the patients with none of the 5 mutations, we identified 36 patients (12.5%) who had no coding region mutations. Analysis of the 3'-UTR region in these patients showed two Alu repeats (AluSx and AluSq), which were located in the 3'-UTR of the reference mRNA sequence. Sequencing of the 3'-UTR of the MEFV gene showed several SNPs that were clustered in 2 haplotypes. When we genotyped all study groups for two of the 3'-UTR SNPs (rs2741918 and rs450021), we observed a significant increase in the frequency of heterozygotes for the 3'-UTR haplotypes in the FMF patients with no coding region polymorphisms compared to the healthy controls (75% versus 48.5%, p=0.006, OR=3.2, 95% CI 1.4-7.4). CONCLUSION: This study showed a group of 3'-UTR polymorphisms in the MEFV gene that are clustered in two haplotypes. In addition, a genetic association was observed between 3'-UTR polymorphisms and the FMF patients with no coding region mutations. These findings may suggest a role for 3'-UTR sequences in the regulation of MEFV expression.

Angiotensinogen M235T polymorphism and left ventricular indices in treated hypertensive patients with normal coronary arteries.

OBJECTIVE: Hypertension and left ventricular hypertrophy (LVH) are important causes of morbidity and mortality in the population. Angiotensinogen (AGT) M235T polymorphism has been associated with LVH, left ventricular dimensions, coronary artery disease and antihypertensive drug response in previous studies. We examined relationship between AGT M235T polymorphism and echocardiographic left ventricular indices in a Turkish population of treated hypertensive patients with normal coronary arteries. METHODS: In this cross-sectional study a Turkish population of 92 hypertensive patients treated in our outpatient clinic were enrolled. All patients had normal coronary angiographic examinations. Genotypes for AGT M235T were determined from peripheral leukocytes. Left ventricular dimensions, mass and function indices, after adjustment for clinical covariates were analyzed by multiple regression analysis according to genotypes. RESULTS: Genotype frequencies for AGT M235T were MM-24.7%, MT-52.8% and TT-22.5%. Left ventricular end-systolic (LVES) dimensions for AGT M235T MM, MT, TT genotypes were 17.9+/-4.2 mm, 19.4+/-6.2 mm, and 16.4+/-2.9 mm, respectively (p=0.08). Angiotensinogen M235T TT genotype showed a trend towards a lower LVES dimension but results were not statistically significant. Left ventricular ejection fractions for AGT M235T MM, MT, TT subgroups were 61.3+/-15.0%, 59.4+/-14.0%, and 67.8+/-8.5%, respectively (p=0.07). Angiotensinogen M235T TT genotype showed a tendency towards lower left ventricular mass index but results were not statistically significant. None of the AGT M235T genotypes predicted left ventricular dilatation, mass or function in treated hypertensive patients with normal coronary arteries. CONCLUSION: Angiotensinogen M235T polymorphism was not useful to predict left ventricular mass, function, hypertrophy or dilatation in a small population of treated Turkish hypertensive patients with normal coronary arteries.

Pulmonary hypertension in patients with chronic renal failure.

BACKGROUND: Many etiologies causing pulmonary hypertension (PH) have been reported, and one of the background disease seen with patients with PH is chronic renal failure (CRF); however, the pathogenesis of PH in this group of patients is not explained satisfactorily. OBJECTIVES: The aims of this study were to evaluate the incidence of unexplained PH among patients with CRF and to suggest possible etiologic factors. METHODS: Two hundred and eleven patients with CRF were evaluated and the ones who have comorbid conditions that cause PH were excluded. Pulmonary arterial pressure (PAP) and cardiac functions were evaluated by Doppler echocardiography. Arteriovenous fistula (AVF) flow was measured by Doppler sonography. The patients were followed for at least 6 months. RESULTS: Forty-eight CRF patients (20 males, 28 females) were included: 23 were predialysis patients, and 25 patients received hemodialysis via AVF. Patients were followed for 7.5 +/- 1.01 months. Systolic PAP >35 mm Hg was found in 56% (14/25) of patients receiving hemodialysis (36.8 +/- 10.7 mm Hg) and in 39.1% (9/23) of predialysis patients (29.5 +/- 9.5 mm Hg). The parathyroid hormone level, cardiac output values and CRF duration were found to be increased in patients with elevated systolic PAP (p < 0.05). AVF flow and AVF duration were positively correlated with systolic PAP in patients receiving hemodialysis (p < 0.05). There was a negative correlation between systolic PAP and residual urine volume (p < 0.05). AVF compression in hemodialysis patients decreased systolic PAP from 36.8 +/- 10.7 to 32.8 +/- 10.5 mm Hg. Systolic PAP values were increased at the end of the study in the predialysis group, whereas they were decreased at the end of the follow-up in the hemodialysis group (36.9 +/- 10.5 and 32.04 +/- 10.5 mm Hg, respectively). CONCLUSIONS: This study demonstrates a high incidence of PH among patients with CRF. CRF duration, AVF flow, parathyroid hormone level and cardiac output may be involved in the pathogenesis of PH. The effective hemodialysis and dry weight reduction decreased systolic PAP values.

Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

BACKGROUND: Endothelial nitric oxide synthase produces nitric oxide which is involved in many physiologic regulatory functions. Variable number of tandem repeats in intron 4 of endothelial nitric oxide synthase gene are reported to be associated with blood pressure regulation. Nitric oxide is involved in regulation of cardiomyocyte genes but it is not known If endothelial nitric oxide synthase 4 gene polymorphisms are related with left ventricular hypertrophy. We studied endothelial nitric oxide synthase 4a/b allele status in hypertensive and normotensive patients and echocardiographic parameters in a subgroup of hypertensive group. METHODS: We performed a case-control study involving 110 Turkish hypertensive patients and 87 controls. All subjects were genotyped for endothelial nitric oxide synthase 4a/b polymorphism. Echocardiographic measurements were obtained in 94 of the hypertensive patients. RESULTS: Endothelial nitric oxide synthase 4a/b genotype frequencies were 6.4%, 23.6%, 70% in hypertensives and 1.1%, 18.4%, 80.5% in controls for a/a, a/b, b/b, respectively. Left ventricular dimensions, mass and diastolic indices were not different across endothelial nitric oxide synthase 4 genotypes. Patients with 4a/a genotype had higher interventricular septal thickness than the other group; 14.83(1.6), 11.91(1.51), 12.21(1.56) for a/a, a/b, b/b, respectively and p = 0.0001. CONCLUSION: Endothelial nitric oxide synthase 4a/b gene polymorphism is not associated with hypertension in Turkish patients. 4a/a genotype was associated with higher interventricular septal thickness in hypertensive patients.

Aldosterone synthase -344C/T and angiotensin-converting enzyme I/D polymorphisms in Turkish hypertensive patients with normal coronary arteries.

BACKGROUND: The renin-angiotensin-aldosterone system (RAAS) plays an important role in blood pressure regulation, left ventricular and vascular structure. Some hypertensive patients develop left ventricular dilatation and heart failure symptoms while others are relatively less affected. The purpose of our study was to determine whether two major polymorphisms of RAAS are associated with echocardiographic left ventricular mass, function and dilatation in hypertensive patients with normal coronary arteries. METHODS: A Turkish population of 88 patients with hypertension and normal coronary arteries were studied by echocardiography for left ventricular dimension, mass and function. Genotyping was performed for aldosterone synthase (CYP11B2) -344C/T polymorphism in 85, angiotensin-converting enzyme (ACE) I/D polymorphism in 88 patients. Left ventricular dimensions, mass and function indices, after adjustment for clinical covariates, were analysed by multiple regression according to genotypes. RESULTS: None of the two genotypes studied predicted left ventricular dilatation, mass or function in hypertensive patients with normal coronary arteries. CONCLUSION: Neither ACE I/D nor CYP11B2 -344C/T polymorphisms were useful to predict left ventricular mass, function or dilatation in our hypertensive patients with normal coronary arteries.