The #NephJC chat on IgA nephropathy and the significance of crescents was quite exciting, and we were fortunate to have Dr Jonathan Barratt, one of the authors, join us for the EU chat. Thanks again to JASN for providing full text access!
Meta
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Background
Some cases of ADTKD are due to mutations of the MUC-1 gene, one mutation is a frame shift mutation that results in a premature stop codon. which results in accumulation of the abnormally short, and toxic protein MUC-1 fs . The researchers found a small protein, BRD4780, that reroute MUC-1fs to lysosomes, preventing proteinopathy and possibly altering the natural history of the disease.
Background
This week is a joint #DermJC and #NephJC. We will discuss two articles - here is the summary of the larger case series, from Vandana Niyyar.
