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For more than a decade, enzyme replacement therapy represented the only treatment option for patients with Fabry disease. New findings suggest that a pharmacological chaperone can induce renal substrate clearance, decrease left ventricular mass and improve gastrointestinal symptoms in patients with specific mutations in GLA.
A new study has identified a gene set that might predict the development of renal allograft fibrosis. This finding represents a leap forward in transplant diagnostics, but further studies are needed to demonstrate that interventions based on this gene set can prevent fibrosis before it can be utilized to inform therapeutic decisions.
Scleroderma renal crisis is a rare, potentially life-threatening complication of systemic sclerosis. Here, the authors discuss advances made in the detection, management and prognosis of scleroderma renal crisis, which can limit the progression of affected patients to chronic kidney disease.
Nephron number varies widely in healthy adults. The extent to which this variation is due to differences in nephron endowment at birth and/or nephron loss with ageing is unclear. A recent study used a novel approach to identify a previously unappreciated high loss of nephrons with ageing in healthy kidneys.
Human renal tissues can now be generated from human pluripotent stem cells in vitro. Here, Melissa Little and colleagues explore how improved understanding of renal development has guided differentiation protocols to generate kidney cellsin vitroand discuss the potential applications for these cells in nephrology.
Heart failure and kidney disease share a number of pathophysiological pathways. Here, Stefan Anker and colleagues discuss crosstalk between the heart and the kidneys, the epidemiology of heart failure and kidney dysfunction, and the treatment of cardio-renal syndromes.
Podocytes have a crucial role in maintaining the glomerular filtration barrier and their loss leads to glomerular disease. This Review discusses the role of podocyte actin dynamics in health and disease as well as the potential for personalized medicine approaches that target podocyte proteins.
The diagnosis and management of hypertension among patients on chronic dialysis represents a major challenge. In this Review, Georgianos and Agarwal discuss the epidemiology, diagnosis and treatment of hypertension in patients on dialysis on the basis of currently available evidence from randomized and observational studies.
Haemodialysis vascular access is a 'lifeline' for almost 2 million patients worldwide; yet given the substantial problems associated with access dysfunction, vascular access is also the Achilles heel of haemodialysis. Recent data suggest that use of novel bioengineered human acellular vessels for haemodialysis access might help to overcome these problems.
Genome-wide association studies (GWAS) have shed light on the genetic basis of chronic kidney disease (CKD). Here, Matthias Wuttke and Anna Köttgen discuss the findings of GWAS of CKD-defining traits and of GWAS of specific CKD aetiologies and their follow-up experimental and epidemiological studies, as well as their implications for future study design.
The mTOR pathway has a role in the development of renal disease, kidney transplant rejection and malignancies. Here, the authors discuss the mechanisms by which mTOR complexes drive the pathogenesis of these diseases as well as the therapeutic potential of mTOR inhibitors.
The most common predisposing factor for the formation of idiopathic calcium stones is hypercalciuria. Here, the authors discuss the mechanisms of idiopathic calcium stone formation and hypercalciuria as well as potential therapeutic strategies to reduce the risk of stone formation.
Autoantibodies against complement factor H (FH), the main plasma regulatory protein of the alternative pathway of the complement system, are associated with atypical haemolytic uraemic syndrome and C3 glomerulopathy. Here, Arvind Bagga and colleagues describe the prevalence, mechanisms, features, therapies and outcomes of kidney diseases mediated by anti-FH antibodies, and propose an approach to evaluate and manage these diseases.
New data from a substudy of the SPRINT trial suggest a benefit of intensive blood pressure lowering in patients ≥75 years with hypertension. These new findings will be crucial to update guidelines on blood pressure control in the elderly hypertensive population, with targets potentially lower than those previously recommended.
Blood pressure lowering slows the progression of diabetic nephropathy whereas the effects of glycaemic control are smaller and slower. New findings from the EMA-REG OUTCOME investigators indicate that SGLT2 inhibition slows the progression of kidney disease by lowering glucose and blood pressure, thereby lowering the risk of adverse renal outcomes in this patient group.
A recent study suggests that salt reduction should be confined to hypertensive individuals with high salt intake. However, this study has serious methodological issues and its findings should therefore not challenge the strong evidence supporting the benefits of salt reduction for the general population.
A wearable haemodialysis device holds the promise of freedom for patients to carry on with their lives without the limitations associated with conventional dialysis. A new report of the outcomes of 24 h treatment with a wearable haemodialysis system represents a small but important step forward in the development of a wearable device.
Nephrotoxin-induced acute kidney injury (AKI) is a considerable risk among hospitalized children. The development and use of a proactive, nephrotoxin screening system seems to have led to a significant improvement in AKI rates in one children's hospital, suggesting that such systems might have broader implications for patient care.
Next-generation sequencing has boosted gene discovery and facilitated the identification of previously unrecognized phenotypes associated with kidney disease genes, leading to reclassification of clinical diagnoses and broadening our understanding of the phenotypic spectrum of classic kidney disease-associated genes. Here, the authors discuss examples of genes and gene categories for which genetic studies have led to an expansion in our understanding of their phenotypic spectrums, both across and within current kidney disease categories.
Dysregulation of the epidermal growth factor receptor (EGFR) pathway has a role in numerous kidney diseases. This Review explores the function of the EGFR pathway in renal physiology and pathology and the clinical potential of targeting this signalling pathway as a therapeutic strategy to treat kidney diseases.