Guidelines for Genetic Testing and Management of Alport Syndrome
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Published:2021-12-20
Issue:1
Volume:17
Page:143-154
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ISSN:1555-9041
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Container-title:Clinical Journal of the American Society of Nephrology
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language:en
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Short-container-title:CJASN
Author:
Savige Judy, Lipska-Zietkiewicz Beata S.ORCID, Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Mari Francesca, Hilbert Pascale, Plevova Pavlina, Byers Peter, Cerkauskaite Agne, Gregory Martin, Cerkauskiene RimanteORCID, Ljubanovic Danica Galesic, Becherucci Francesca, Errichiello Carmela, Massella Laura, Aiello Valeria, Lennon RachelORCID, Hopkinson LouiseORCID, Koziell Ania, Lungu Adrian, Rothe Hansjorg Martin, Hoefele Julia, Zacchia Miriam, Martic Tamara Nikuseva, Gupta Asheeta, van Eerde Albertien, Gear Susie, Landini SamuelaORCID, Palazzo Viviana, al-Rabadi Laith, Claes Kathleen, Corveleyn Anniek, Van Hoof Evelien, van Geel Micheel, Williams Maggie, Ashton Emma, Belge Hendica, Ars ElisabetORCID, Bierzynska Agnieszka, Gangemi Concetta, Renieri AlessandraORCID, Storey Helen, Flinter Frances
Abstract
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3–COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.
Publisher
American Society of Nephrology (ASN)
Subject
Transplantation,Nephrology,Critical Care and Intensive Care Medicine,Epidemiology
Cited by
45 articles.
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