Molecular Screening for R138q Mutation in the Podocin Gene for Focal Segmental Glomerulosclerosis (Fsgs)

(p < 0.05). In pathologic specimens, sclerosis was found in 20 patients (53.6%). Among these patients end stage renal disease (ESRD), non-remission and remission were observed 26.6%, 60%, 13.3% in follow- up respectively. However, in the patients with mild pathologic findings without sclerosis ESRD, non-remission and remission were observed 33.7%, 7.6%, 61.5% in follow-up respectively (p < 0.05). Podocin mutation was investigated in 14 patients. Podocin mutation was detected in 12 patients. Nine patients with podocin mutation had developed ESRD in follow-up. Long term prednisolone treatment was the first choice for all patients; but in the follow-up 25 patients needed additive treatments with cytotoxic agents. Conclusions: In conclusion, patients with sclerosis and podocin mutation had determined to have poor prognosis. In summary, to determine the prognostic factors of FSGS and to predict the outcome large prospective studies are needed. have designed a molecular, PCR-RFLP test that exploits the fact that G to A nucleotide substitution abolishes the cutting site of HaeIII restriction endonuclease. Thus, for a wild type sequence (GGCC) HaeIII would cut the amplified PCR products in two fragments of 63 and 107 bps. Mutated sequence (GACC) would remain uncut with the 170 bp PCR product. Results: In the pilot study we have screened 36 of adult patients ( > 21yr of age at the presentation, range 21 – 80ys) who had primary FSGS with non-nephrotic and mostly nephrotic-range proteinuria. The PCR assay produced the expected 170bp amlicon of the NPHS2 gene.After digestion with HaeIII restriction endonuclease PCR amplicons of all patients examined were cut thus indicating the absence of mutation. Conclusions: When analysing the present finding one has to bear in mind that mutations at the other sites in the gene (several different mutations were described so far) are possible. Nevertheless, presented molecular test is sim- ple and rapid thus applicable for screening for the R 138Q, the most frequent mutation of the podocin gene. Further testing in selected and larger popula- tion is waranted, since it might modify therapeuthic aproach in this patients. ACE genotype was determined using PCR method, while APO E using LightCycler and hybridisation probes. Results: There were 70 patients with DD(33.9%), 108 with ID(51.1%) and 33 with II(15.6%) ACE genotype. D alelle frequency was 0.58(vs. 0.53 in normotensives;p=0.09). Distribution of APO E genotype was: e 2/3 in 25(11.8%),e 3/3 in 42(67.2%),e 2/4 in 4(1.8%),e 3/4 in 33(15.6%),e 4/4 in 5(2.3%),e 2/2 in 2(0.9%). Frequency of e2 allele was 0.07,e3 0.81,e4 0.11 (significantly different when compared to the normotensives p=0.019).Patients with DD had more often e2/4 and e3/4 genotype than patients with II(6.0% vs. 0;24.2% vs. 12%, respectively; p < 0.05). Patients with e3/4 had highest LDL cholesterol values, e2/4 had highest triglyceride levels (p < 0.05). Conclusions: Higher frequency of e 4 alelle was observed in our group of patients with EH. Among tham patients with DD genotype had higher frequency than homozygous for I allel. Patients with e4 alelle had higher values of LDL-C i triglycerides. gene expression. Short term, severe dietary sodium restriction and upright position among other stimulates activity of sympathetic nervous system. The present study aimed to answer the question: whether and to what extend dietary sodium restriction and upright position do influence plasma adiponectin concentration in hypertensive patients? Methods: In 19 EHP (8 females, 11 males, age 46 ± 13 years, BMI 29.6 ± 4.8 kg/m 2 ) plasma adiponectin concentration, plasma renin activity (PRA) and 24h urinary sodium excretion (U Na ) were estimated twice: (I) after administration of a normal salt diet (100-120 mmol sodium/day) for 3 days and after 8-h overnight recumbence and (II) after 3 days of dietary sodium restriction (10-20 mmol sodium/day) and 3 hours of upright position. Results: Dietary sodium restriction and upright position was followed by a significant decrease of U Na (from 115 ± 47 to 24 ± 10 mmol/24h; p < 0.01) and a significant increase of PRA (from 2.5 ± 1.9 to 10.3 ± 12.1 ng/ml/h; p < 0.01). Plasma adiponectin concentration showed a moderate, however significant, decrease (from 7.2 ± 4.2 to 6.5 ± 4.5 mg/ml; p < 0.02). Conclusions: Short term, severe dietary sodium restriction and upright position leads to a moderate decrease of plasma adiponectin concentration in patients with essential hypertension. However the clinical consequences of long term dietary sodium restriction on plasma adiponectin concentration remains to be established. to cardiovas- cular(CV)risk in patients with diabetes, hypertension, and in an unselected general population; serum uric acid(UA) is emerging as a novel risk factor for CV disease. Aim of our study was to evaluate the prevalence of excess microalbuminuria and its relation to established CV risk factors and serum UA in healthy subjects. Methods: We have screened 900 healthy blood donors (age range 20-65 years, 153 women,747 men), measuring total, HDL and LDL-cholesterol,blood glucose, serum and urinary creatinine, serum UA, blood pressure(BP) and microalbuminuria(urinary albumin/creatinine ratio, ACR); the Framingham risk score was also calculated. Results: Data from 848 subjects were assessed.The overall prevalence of excess ACR, using a 30mg/g creatinine cut-off, was 9.3% (9.7% men, 7.5% women,p=0.16); adopting agender-dependentcut-off, theoverall prevalence was 13.6% (15.1% men, 6.2% women, p < 0.01). ACR was highly correlated to diastolic (r=0.88, p < 0.001) and systolic (r=0.74, p < 0.001) BP, and also, though not as strongly, to serum UA (r=0.38, p < 0.001). In a stepwise multiple regression model, systolic and diastolic BP, total cholesterol, serum creatinine and UA were segregated as independent predictors of microalbuminuria (model R=0.91, R square=0.83). Correlation of serum UA to ACR remained significant, albeit attenuated (r=0.09, p=0.02), after adjustment for serum creatinine, total cholesterol, systolic and diastolic BP. Conclusions: The results of our study show ACR to be abnormal in a significant proportion of seemingly healthy subjects, and serum UA to be an independent, though weak, predictor of albuminuria. Introduction and Aims: Studies on etiopathogenesis of essential hyperten- sion and the effects of genetic factors on target organ damage have been accelerated.Numerous studies have shown that the serum level of 1.25(OH) 2 vitamin D3 is inversely associated with blood pressure in hypertensive subjects. The genomic mechanism of vitamin D is mediated through the vitamin D receptor (VDR). Several restriction fragment length polymorphisms have been reported for the VDR gene, including sites cleaved by Bsm -I, Apa -I and Fok -I. This study was conducted to analyze if Apa -I, Bsm -I and Fok -I polymorphisms of the VDR gene influence the target organ damage in hypertensive patients. Methods: The relationship between vitamin D receptor (VDR) gene polymorphisms ( Bsm -I, Apa -I and Fok -I), and target organ damage in 74 patients (Female/Male 49/25, mean age: 49.2 ± 8 year) with essantial hypertension were evaluated. The VDR genotypes were detected by PCR-RFLP method. Patients with diabetes mellitus and severe obesity were excluded. All patients underwent a complete physical examination, full biochemistry and urinalysis, in addition, all of them were assessed for target organ damage; eye with retinal examination, heart with echocardiography and kidney with blood and 24-h urine analysis. Twenty-four hour ambulatory blood pressure monitoring was performed in all patients. Results: No significant difference was detected in laboratory results and physical examination between groups of Bsm -I and Apa -I VDR gene polymorphisms. Patients were distributed as FF(n:39) and non-FF (Ff/ff, n:35) for Fok -I polymorphism. Negative corelation was present between vitamin D levels and day-time interval (systolic pressure p:0.014, r:-0.599, diastolic pressure p:0.008, r:-0.639) and early morning avarage (systolic pressure p:0.024, the the were seen by the SPN, using 51 distinct CMPs (some patients had more than one CMP). Patients attended the SPN’s clinic from 1-5 times (median 1.6). 17 (38%) did not have their medications adjusted as either their BP was already to target when first seen, of for other clinical reasons. For the 30 CMPs (in 27 patients) carried out by the SPN, blood pressure was reduced from a mean of 151/81 to 139/76 following 65 visits to the SPN (average 2.2 visits per patient). This was achieved over a mean of 43 days per CMP (range 6-97 days). The commonest groups of drugs prescribed were alpha blockers (33%), ACE inhibitors (31%) and diurectics (21%). No undue adverse events occurred over and beyond what would be expected with the prescribing of these drugs, and prompt referral to a physician was always available. Conclusions: We conclude that it is feasible for a supplementary prescriber nurse to manage hypertension effectively in the out-patient setting, in partnership with the medical staff. Such partnership off-loads medical clinics, potentially reduces the time to achieving good blood pressure control, and improves patient care. There is scope to extend supplementary prescribing to other renal and related conditions in the hospital setting. differences have a have a significantly lower than obese men. This difference was not affected by the presence or absence of antihypertensive medications. These results could indicate that a different pathogenetic mechanism may be involved in the relationship between obesity and hypertension in men and women. This study aims to identify individuals without hypertension, although salt abusers, to evaluate urinary sodium excretion and blood pressure variation. The hypothesis is that a higher Salt Taste Threshold (STT) can be associated with a higher 24 hour sodium excretion and increased blood pressure level