Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Background: Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations which have been linked to classic and cardiac variants of FD.

Methods And Results: We report a novel hemizygous deep intronic GLA mutation (IVS4+1326C>T) in a 33-year-old Chinese man with a mild α-GalA deficiency phenotype involving isolated proteinuria and predominant globotriaosylceramide deposits in podocytes.

Efficacy and safety of Shenyankangfu Tablet, a Chinese patent medicine, for primary glomerulonephritis: A multicenter randomized controlled trial.

Background: Shenyankangfu Tablet (SYKFT) is a Chinese patent medicine that has been used widely to decrease proteinuria and the progression of chronic kidney disease.

Objective: This trial compared the efficacy and safety of SYKFT, for the control of proteinuria in primary glomerulonephritis patients, against the standard drug, losartan potassium.

Design, Setting, Participants And Intervention: This was a multicenter, double-blind, randomized, controlled clinical trial.

Decreased KLHL3 expression is involved in the activation of WNK-OSR1/SPAK-NCC cascade in type 1 diabetic mice.

Familial hyperkalemic hypertension (FHHt; also called pseudohypoaldosteronism type II) is a hereditary hypertensive disease which can be caused by mutations in four genes: WNK1 [with no lysine (K) 1], WNK4, Kelch-like3 (KLHL3), and cullin3 (CUL3). Decreased KLHL3 expression was identified as being involved in the pathogenesis of FHHt caused by cullin 3 disease mutations. Recent studies have revealed an increased WNK4 and hence Na-Cl cotransporter (NCC) activity in the db/db mice, resulting from PKC-mediated KLHL3 phosphorylation, which impairs the degradation of its substrate, WNK4.

Effect of Sheng Xue Ning Tablets on Renal Anemia in Patients Subject to Maintenance Hemodialysis and Safety Evaluation: A Multi-setting Prospective Randomized Study.

This study compared Sheng Xue Ning (SXN) tablets with ferrous succinate (FS) tablets in terms of their efficacy for the treatment of iron-deficient renal anemia and safety in patients subject to maintenance hemodialysis (MHD). A total of 94 patients undergoing MHD were randomly assigned to an experiment group (receiving oral SXN tablets, SXN group) and a control group (orally given FS tablets, FS group) and followed up for 12 weeks. Erythropoietin (EPO) was used in both groups.

De novo Cardiac Valve Calcification after Hemodialysis in End-Stage Renal Disease Patients Predicts Future Cardiovascular Events: A Longitudinal Cohort Study.

Background: Cardiac valve calcification (CVC) in maintenance hemodialysis patients is associated with adverse cardiovascular outcomes. However, whether de novo CVC in incident hemodialysis patients predicts future cardiovascular events is unknown.

Methods: This study included 174 patients newly receiving hemodialysis without CVC as reflected by echocardiography between January 2005 and December 2014.

First identification of nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.

Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree.

Safety, Effectiveness, and Manipulability of Peritoneal Dialysis Machines Made in China: A Randomized, Crossover, Multicenter Clinical Study.

Background: Automated peritoneal dialysis (APD) can cater to individual needs, provide treatment while asleep, take into account the adequacy of dialysis, and improve the quality of life. Currently, independent research and development of APD machines made in China are more conducive to patients. A randomized, multicenter, crossover study was conducted by comparing an APD machine made in China with an imported machine.

Randomised, open-label, multicentre trial comparing haemodialysis plus haemoperfusion versus haemodialysis alone in adult patients with end-stage renal disease (HD/HP vs HD): study protocol.

Introduction: Haemodialysis (HD) is the cornerstone treatment for patients with end-stage renal disease (ESRD). However, highly protein bound or large molecular weight uremic toxins such as phenolic and indolic compounds and homocysteine, which are associated with adverse outcomes such as cardiovascular disease of patients with ESRD, are difficult to remove via HD but can be effectively eliminates by haemoperfusion (HP). The proposed trial (referred to as HD/HP vs HD below) is a randomised, open-label, multicentre trial comparing HD plus HP versus HD alone in adult patients with ESRD.

Impact of hemoglobin variability on cardiovascular mortality in maintenance hemodialysis patients.

Purpose: Although the association between anemia and cardiovascular mortality in hemodialysis patients is well established, whether hemoglobin variability (Hgb-Var) affects the prognosis remains unclear. We aimed to evaluate the association between Hgb-Var and cardiovascular mortality in Chinese hemodialysis patients.

Methods: This retrospective study included 252 patients starting hemodialysis in Xin Hua Hospital between January 2009 and December 2015.

Resveratrol attenuates skeletal muscle atrophy induced by chronic kidney disease via MuRF1 signaling pathway.

Skeletal muscle atrophy is an important clinical characteristic of chronic kidney disease (CKD); however, at present, the therapeutic approaches to muscle atrophy induced by CKD are still at an early stage of development. Resveratrol is used to attenuate muscle atrophy in other experimental models, but the effects on a CKD model are largely unknown. Here, we showed that resveratrol prevented an increase in MuRF1 expression and attenuated muscle atrophy in vivo model of CKD.

Combination therapy with lamivudine and angiotensin-converting enzyme inhibitor/angiotensin receptor blocker for hepatitis B virus-associated glomerulonephritis with mild to moderate proteinuria: a clinical review of 38 cases.

Purpose: The treatment of HBV-associated glomerulonephritis (HBV-GN) is still a challenge in clinical practice now. The objective of this study was to report the pathological characteristics of HBV-GN presenting with mild to moderate proteinuria and to evaluate the therapeutic efficacy of lamivudine (LAM) in combination with angiotensin-converting enzyme inhibitor (ACEI)/angiotensin receptor blocker (ARB) as compared to ACEI/ARB monotherapy.

Methods: We conducted a retrospective observational study in HBV-GN patients between 2005 and 2014.

Effects of mineralocorticoid receptor antagonists on the progression of diabetic nephropathy.

Aims/introduction: We aimed to evaluate the potential benefits and adverse effects of adding a mineralocorticoid receptor antagonist (MRA) to angiotensin-converting enzyme inhibitors (ACEI) and/or angiotensin receptor blockers (ARB), as standard treatment in patients with diabetic nephropathy.

Materials And Methods: We scanned the Embase, PubMed and Cochrane Central Register of Controlled Trials databases for human clinical trials published in English until June 2016, evaluating renal outcomes in patients with diabetic nephropathy.

Results: A total of 18 randomized controlled trials involving 1,786 patients were included.

miR-204 regulates epithelial-mesenchymal transition by targeting SP1 in the tubular epithelial cells after acute kidney injury induced by ischemia-reperfusion.

Acute kidney injury (AKI) is a disease where kidney function is lost almost instantaneously; it can develop very rapidly over few hours to maximum of few days. Despite the advent of technology, the clinical management against this disease is very poor, and most of the time it is life-threatening. AKI has been actively regulated by extracellular matrix proteins (ECM), however, its underlying mechanism of regulation during AKI progression is very poorly understood.

Serum phosphorus is related to left ventricular remodeling independent of renal function in hospitalized patients with chronic kidney disease.

Background: Increasing evidence indicated that phosphorus emerged as an important cardiovascular risk factor in patients with chronic kidney disease (CKD). The fact that serum phosphorus was closely linked to vascular and valvar calcification may account for one important reason. However, left ventricular remodeling may also serve as another potential mechanism of the cardiac toxicity of phosphorus.

Prevalence, awareness, and treatment of anemia in Chinese patients with nondialysis chronic kidney disease: First multicenter, cross-sectional study.

This was the first multicenter, cross-sectional survey to assess the prevalence of anemia, patient awareness, and treatment status in China. Data of patients with chronic kidney disease (CKD; age, 18-75 years; both out- and inpatients) from 25 hospitals in Shanghai, seeking medical treatment at the nephrology department, were collected between July 1, 2012 and August 31, 2012. The prevalence, awareness, and treatment of anemia in patients with nondialysis CKD (ND-CKD) were assessed.

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel nonsense mutation: A case report.

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function.

Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

IgA nephropathy (IgAN) is one of the most common primary glomerulonephritis. Previously identified genome-wide association study (GWAS) loci explain only a fraction of disease risk. To identify novel susceptibility loci in Han Chinese, we conduct a four-stage GWAS comprising 8,313 cases and 19,680 controls.

Imbalance of regulatory T cells to Th17 cells in IgA nephropathy.

Background: Dysregulation of CD4 (+) T cell subsets participates in the pathogenesis of IgA nephropathy (IgAN). FoxP3 (+) regulatory T cells (Treg) and Th17 cells are two novel subsets of CD4 (+) T cells. This study aims to investigate Treg/Th17 balance in IgAN patients.

Combination of maintenance hemodialysis with hemoperfusion: a safe and effective model of artificial kidney.

Objective: To investigate whether the combination of maintenance hemodialysis (MHD) with hemoperfusion (HP) could improve the clearance rate of middle and large molecule uremic toxins so as to improve the quality of life of MHD patients and reduce their mortality rate.

Methods: This study was a prospective, randomized, controlled clinical trial. 100 MHD patients were selected and then randomly divided into two groups after four weeks of run-in period.

Genetic polymorphisms of the renin-angiotensin-aldosterone system in Chinese patients with end-stage renal disease secondary to IgA nephropathy.

Background: Genetic variability in the renin-angiotensin-aldosterone system may modify renal responses to injury and disease progression. The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the angiotensinogen (AGT) gene, M235T, the aldosterone synthase (CYP11B2) gene, C-344T, and the angiotensin II type 1 receptor (AT1R) gene, A1166C, have been shown to be associated with IgA nephropathy (IgAN) and its progression. We determined the presence of these polymorphisms in 130 Chinese patients with IgAN, including 47 patients with end-stage renal disease (ESRD) and 120 healthy Chinese subjects, to assess their impact on the susceptibility to disease and the liability of progression to ESRD.

[A multi-center survey of hypertension and its treatment in patients with maintenance hemodialysis in Shanghai].

Objective: To study the prevalence, treatment policy and control of hypertension in patients with maintenance hemodialysis, and to analyze the influencing factors of hypertension control.

Methods: We studied the current status of 1382 patients with maintenance hemodialysis in 11 dialysis centers in Shanghai, among them 809 were male, and 573 were female. Hypertension was defined as systolic blood pressure (SBP)≥140 and/or diastolic blood pressure (DBP)≥90 mm Hg (1 mm Hg=0.