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. 2022 Jan;17(1):143-154.
doi: 10.2215/CJN.04230321. Epub 2021 Dec 20.

Guidelines for Genetic Testing and Management of Alport Syndrome

Judy Savige  1 , Beata S Lipska-Zietkiewicz  2 , Elizabeth Watson  3 , Jens Michael Hertz  4 , Constantinos Deltas  5 , Francesca Mari  6 , Pascale Hilbert  7 , Pavlina Plevova  8   9 , Peter Byers  10   11 , Agne Cerkauskaite  12 , Martin Gregory  13 , Rimante Cerkauskiene  14 , Danica Galesic Ljubanovic  15 , Francesca Becherucci  16 , Carmela Errichiello  16 , Laura Massella  17 , Valeria Aiello  18 , Rachel Lennon  19 , Louise Hopkinson  19 , Ania Koziell  20 , Adrian Lungu  21 , Hansjorg Martin Rothe  22 , Julia Hoefele  23 , Miriam Zacchia  24 , Tamara Nikuseva Martic  25 , Asheeta Gupta  26 , Albertien van Eerde  27 , Susie Gear  28 , Samuela Landini  29 , Viviana Palazzo  30 , Laith Al-Rabadi  31 , Kathleen Claes  32 , Anniek Corveleyn  33 , Evelien Van Hoof  33 , Micheel van Geel  34 , Maggie Williams  35 , Emma Ashton  36 , Hendica Belge  37 , Elisabet Ars  38 , Agnieszka Bierzynska  39 , Concetta Gangemi  40 , Alessandra Renieri  6 , Helen Storey  41 , Frances Flinter  42
Affiliations

Guidelines for Genetic Testing and Management of Alport Syndrome

Judy Savige et al. Clin J Am Soc Nephrol. 2022 Jan.

Erratum in

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.

Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; FSGS; collagen IV; digenic Alport syndrome; genetic testing; kidney cysts; thin basement membrane nephropathy.

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