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A new piece in the nephrotic puzzle

A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.

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Figure 1: Model for glomerular disease resulting from mutations in PLCE1.

Kim Caesar

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Quaggin, S. A new piece in the nephrotic puzzle. Nat Genet 38, 1360–1361 (2006). https://doi.org/10.1038/ng1206-1360

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