Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Oct 2021
Furlano Mónica, Martínez Victor, Pybus Marc, Arce Yolanda, Crespí Jaume, Venegas María Del Prado, Bullich Gemma, Domingo Andrea, Ayasreh Nadia, Benito Silvia, Lorente Laura, Ruíz Patricia, Gonzalez Vanesa López, Arlandis Rosa, Cabello Elisa, Torres Ferran, Guirado Lluis, Ars Elisabet, Torra Roser
Abstract excerpt
RATIONALE & OBJECTIVE: Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study....
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