| Literature DB >> 34930753 |
Judy Savige1, Beata S Lipska-Zietkiewicz2, Elizabeth Watson3, Jens Michael Hertz4, Constantinos Deltas5, Francesca Mari6, Pascale Hilbert7, Pavlina Plevova8,9, Peter Byers10,11, Agne Cerkauskaite12, Martin Gregory13, Rimante Cerkauskiene14, Danica Galesic Ljubanovic15, Francesca Becherucci16, Carmela Errichiello16, Laura Massella17, Valeria Aiello18, Rachel Lennon19, Louise Hopkinson19, Ania Koziell20, Adrian Lungu21, Hansjorg Martin Rothe22, Julia Hoefele23, Miriam Zacchia24, Tamara Nikuseva Martic25, Asheeta Gupta26, Albertien van Eerde27, Susie Gear28, Samuela Landini29, Viviana Palazzo30, Laith Al-Rabadi31, Kathleen Claes32, Anniek Corveleyn33, Evelien Van Hoof33, Micheel van Geel34, Maggie Williams35, Emma Ashton36, Hendica Belge37, Elisabet Ars38, Agnieszka Bierzynska39, Concetta Gangemi40, Alessandra Renieri6, Helen Storey41, Frances Flinter42.
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.Entities:
Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; FSGS; collagen IV; digenic Alport syndrome; genetic testing; kidney cysts; thin basement membrane nephropathy
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Year: 2021 PMID： 34930753 PMCID： PMC8763160 DOI： 10.2215/CJN.04230321
Source DB: PubMed Journal: Clin J Am Soc Nephrol ISSN： 1555-9041 Impact factor: 8.237