Jiang Xj

Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population

Liddle syndrome, an autosomal dominant form of monogenic hypertension, has been regarded as a rare disorder, which leads to many Liddle syndrome patients being misdiagnosed and experiencing severe complications at an early age. Little is known about the prevalence of Liddle syndrome. In this study, the authors investigated the prevalence of Liddle syndrome confirmed by genetic testing among young hypertension patients of undetermined causes in China. A total of 330 hypertensive patients aged 14 to 40 years after exclusion of common secondary causes of hypertension were enrolled and serum potassium concentrations were measured. Patients with hypokalemia underwent genetic testing of the 13th exon of genes encoding β and γ subunits of the epithelial sodium channel (ENaC). Diagnosis was established by identification of mutations that destroy the PY motif of ENaC. Five patients were diagnosed with Liddle syndrome (prevalence, 1.52%), as well as 12 of their relatives. These patients with Liddle syndrome presented with an earlier onset of hypertension, a stronger family history of hypertension, and higher blood pressure than those with essential hypertension. All patients had hypokalemia and suppressed plasma renin activity. The results demonstrated that Liddle syndrome is an important etiology of hypertension in this young population. Screening of Liddle syndrome should focus on young hypertension patients, particularly those with early penetrance, hypokalemia, and low renin levels after exclusion of common secondary causes.

A novel frameshift mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case

Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension.

A Comparison of Nephrotoxicity of Contrast Medium in Elderly Patients who Underwent Renal or Peripheral Arterial Vascular Intervention

OBJECTIVEnTo compare the nephrotoxicity of iodixanol in elderly patients who underwent a renal artery intervention (RAI) with those who underwent an other peripheral vascular intervention (OPI).nnnMETHODSnThree hundred fifty-four consecutive patients (>60 years old) received iodixanol during RAI (n=150) or OPI (n=204). The level of serum creatinine (SCr) was measured at the baseline, 24 hours, 48 hours, 72 hours and 1 month after intervention.nnnRESULTSnWithin 72 hours after the intervention, the adjusted mean of the peak SCr increase was 11.22 umol/L 〔95% confidence interval (CI): 9.21-13.24〕 in the RAI group and 12.40 umol/L (95%CI: 10.7-14.09) in the OPI group. The difference in the peak SCr increase was -1.17 umol/L (95%CI: -3.94-1.60; p=0.406). Contrast-induced nephropathy occurred in 26 patients (17.3%) of the RAI group and in 27 patients (13.2%) of the OPI group (p=0.286). Patients who underwent an RAI showed no increased risk for contrast-induced nephropathy in comparison with patients who underwent an OPI 〔adjusted odds ratio (OR)=1.108; 95%CI: 0.540-2.273; p=0.780〕.nnnCONCLUSIONnThe nephrotoxic effect of iodixanol in elderly patients who underwent RAI or OPI was comparable.

Clinical Characteristics and Prognosis of End-stage Hypertrophic Cardiomyopathy

Background:End-stage hypertrophic cardiomyopathy (HCM) is complicated by substantial adverse events. However, few studies have focused on electrocardiographic features and their prognostic values in HCM. This study aimed to evaluate the clinical manifestations and prognostic value of electrocardiography in patients with end-stage HCM. Methods:End-stage HCM patients were enrolled from a total of 1844 consecutive HCM patients from April 2002 to November 2013 at Fuwai Hospital. Clinical data, including medical history, electrocardiography, and echocardiography, were analyzed. Cox hazards regression analysis was used to assess the risk factors for cardiovascular mortality. Results:End-stage HCM was identified in 99 (5.4%) patients, averaged at 52 ± 16 years old at entry. Atrial fibrillation was observed in 53 patients and mural thrombus in 19 patients. During 3.9 ± 3.0 years of follow-up, embolic stroke, refractory heart failure, and death or transplantation were observed in 20, 39, and 51 patients, respectively. The incidence of annual mortality was 13.2%. Multivariate Cox hazards regression analysis identified New York Heart Association Class (NYHA) III/IV at entry (hazard ratio [HR]: 1.99; 95% confidence interval [CI]: 1.05–3.80; P = 0.036), left bundle branch block (LBBB) (HR: 2.80; 95% CI: 1.47–5.31; P = 0.002), and an abnormal Q wave (HR: 2.21; 95% CI: 1.16–4.23; P = 0.016) as independent predictors of cardiovascular death, in accordance with all-cause death and heart failure-related death. Conclusions:LBBB and an abnormal Q wave are risk factors of cardiovascular mortality in end-stage HCM and provide new evidence for early intervention. Susceptibility of end-stage HCM patients to mural thrombus and embolic events warrants further attention.

Clinical characteristics and treatment of renal artery fibromuscular dysplasia with percutaneous transluminal angioplasty: a long-term follow-up study

BackgroundRenal artery fibromuscular dysplasia (RAFMD) is a non-atherosclerotic cause of renal artery stenosis often affecting the young. Percutaneous transluminal renal angioplasty (PTRA) is the treatment of choice but there are few studies of the outcome of the procedure.MethodsThis retrospective analysis included 64 patients (56.2xa0% female; mean age at diagnosis, 28.0xa0years) with RAFMD who underwent PTRA between November 2003 and August 2015. Technical and clinical success rates and restenosis rates were evaluated.ResultsSeventy-six procedures were performed on 64 RAFMD patients. Technical success was 96.9xa0%, as defined byxa0<30xa0% residual stenosis, with stent placement required in 11 patients (17.2xa0%). In the short term (1xa0month), the majority (79.7xa0%) had an immediate clinical benefit, with cure of hypertension in 35.9xa0%, and improvement in hypertension and a lower requirement for antihypertensive medications in 43.8xa0%. In the long term (mean, 47.5xa0months; range, 5–141xa0months), the survival rate was 96.9xa0%, freedom from restenosis was 84.4xa0%, and 76.6xa0% of patients showed a sustained clinical benefit (cure rate 40.6xa0%, improvement rate 35.9xa0%). Eight patients were treated with a second procedure and two had a third procedure, with half of these patients showing an improvement in hypertension.ConclusionPTRA for symptomatic RAFMD is safe and clinically successful. More than half of patients experience an immediate clinical benefit with sustained long-term effects. For patients with restenosis, there was a good response to a second PTRA.

AB0008 Lack of Association between Polymorphisms in Interlukin (IL-12, IL-12R, IL-23, IL-23R Genes and Takayasu Arteritis in A Chinese Population

Background Takayasu arteritis (TA) is a chronic inflammatory arteritis with unknown cause. Genetic components may play an important role in the pathogenesis of TA. It is indicated that HLA-B*52 allele contributes to TA development worldwide. IL12B is identified as a susceptibility gene for TA in two recent genome-wide association studies. To date, several loci in the genes coding for members of the IL-12/IL-23 pathway have been found to be involved in the pathogenesis of various immune-mediated diseases. Objectives The goal of this study was to investigate the relationship between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, and IL-23R genes and TA in a Chinese population. Methods A case-control study was performed to investigate the associations of nineteen single nucleotide polymorphisms (SNPs) mapping to IL12A, IL12B, IL12RB1, IL12RB2 and IL23R with susceptibility to TA in 145 Chinese TA patients and 300 healthy controls. Genotype identification was performed with the MassARRAY system from Sequenom. In addition, HLA-B*52 genotypes were detected by the polymerase chain reaction using the sequence-specific primers (PCR-SSP).The statistical analysis was conducted by chi-square test and unconditional Logistic regression with plink. Results No significant differences were found for the distribution of allele and genotype frequencies of these SNPs between TA patients and healthy controls. However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. TA patients carrying the rs582054/ rs568408 haplotype (Pc=0.019) appeared less likely to progress to a more severe form of disease. And the C allele (Pc=0.082) of IL23R rs1004819 appeared to be a protective factor to refractory disease. The association of TA with HLA-B*52 was confirmed in this cohort of Chinese patients. Whereas, there was no interaction between HLA-B*52 and polymorphisms in IL-12/IL-23 axis genes. Conclusions These findings suggest that the polymorphisms of IL12A, IL12B, IL12RB1, IL12RB2 and IL23R might make no contribution to the susceptibility of TA in the Chinese population. References Terao C. Revisited HLA and non-HLA genetics of Takayasu arteritis-where are we? J Hum Genet. 2015. doi: 10.1038/jhg.2015.87. Terao C, Yoshifuji H, Kimura A et al. Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population. Am J Hum Genet. 2013; 93:289–97. Saruhan-Direskeneli G, Hughes T, Aksu K et al. Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet. 2013; 93:298–305. van Wanrooij RL, Zwiers A, Kraal G, Bouma G. Genetic variations in interleukin-12 related genes in immune-mediated diseases. J Autoimmun. 2012; 39:359–68. Duvallet E, Semerano L, Assier E, Falgarone G, Boissier MC. Interleukin-23: a key cytokine in inflammatory diseases. Ann Med. 2011;43:503–11. Disclosure of Interest None declared

Can lercanidipine improve renal function in patients with atherosclerotic renal artery stenosis undergoing renal artery intervention

Abstract Objective: To investigate the renal-protective effect of lercanidipine in patients undergoing renal artery intervention. Methods: A prospective, single-center, cohort study was conducted and patients, 30–75 years of age, with atherosclerotic renal artery stenosis were consecutively enrolled between September 2011 and October 2012. Lercanidipine (10–20u2009mg/day) was regularly taken after the intervention. Follow up visits were performed at 3 and 6 months after the intervention. Serum creatinine, clinical blood pressure, 24 hour ambulatory blood pressure, pulse wave velocity, and 24 hour urine protein were assessed. Adverse events were recorded. Results: In total, 55 patients (mean age 63.5u2009±u20098.9 years) were enrolled and 52 completed the study. Renal function, estimated glomerular filtration rate (eGFR) and 24 hour urine protein at 3 months after the intervention were not statistically different compared with the baseline. At 6 months after the intervention eGFR significantly increased versus baseline (78u2009±u200923u2009ml/min/1.73u2009m2 vs 71u2009±u200921u2009ml/min/1.73u2009m2, pu2009=u20090.021); 24 hour urine protein decreased significantly (0.02u2009g [IQR, 0.01–0.1] vs 0.03u2009g [IQR, 0.01–0.28], pu2009=u20090.042). Blood pressure control improved at 3 months and 6 months after the intervention. The need for antihypertensive drugs decreased; clinical systolic blood pressure, diastolic blood pressure and 24 hour average systolic blood pressure and diastolic blood pressure decreased. The pulse wave velocity decreased after 3 and 6 months. At the end of follow-up, none of the following adverse events occurred: death, dialysis, myocardial infarction or stroke. Mild lower extremity edema occurred in only one patient. No other side effects occurred. Conclusions: This study showed that lercanidipine can improve renal function in patients undergoing renal artery intervention.