Article
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2017
Gross Oliver, Kashtan Clifford E, Rheault Michelle N, Flinter Frances, Savige Judith, Miner Jeffrey H, Torra Roser, Ars Elisabet, Deltas Constantinos, Savva Isavella, Perin Laura, Renieri Alessandra, Ariani Francesca, Mari Francesca, Baigent Colin, Judge Parminder, Knebelman Bertrand, Heidet Laurence, Lagas Sharon, Blatt Dave, Ding Jie, Zhang Yanqin, Gale Daniel P, Prunotto Marco, Xue Yong, Schachter Asher D, Morton Lori C G, Blem Jacqui, Huang Michael, Liu Shiguang, Vallee Sebastien, Renault Daniel, Schifter Julia, Skelding Jules, Gear Susie, Friede Tim, Turner A Neil, Lennon Rachel
Abstract excerpt
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the...
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