hereditary proteinuria syndromes

hereditary proteinuria syndromes

A heterogeneous group of rare genetic kidney disorders featuring glomerular leakage to large molecules of still-uncertain cause, and protein in the urine. They include corticosteroid-resistant nephrotic syndrome from a podocin gene mutation, the lethal autosomal recessive Pierson's syndrome, the autosomal dominant Nail-Patella syndrome, and the dominant Denys-Drash and Frasier's syndromes caused by a mutation in the Wilms' tumour gene.
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