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Epigenetic machinery and chromatin remodelling complexes are disrupted in >80% of clear cell renal cell carcinoma tumours. Here, the authors discuss the impact of genomics in identifying genes that affect susceptibility to renal cell carcinoma as well as the opportunities for a precision medicine approach to diagnosis and treatment.
The usefulness of total kidney volume (TKV) as a biomarker of disease progression in autosomal dominant polycystic kidney disease is disputed. Here, the authors propose that TKV can be used to monitor treatment efficacy and as a surrogate end point in clinical trials.
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.