Guidelines for Genetic Testing and Management of Alport Syndrome

Judy Savige; Beata S Lipska-Zietkiewicz; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith Al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabet Ars; Agnieszka Bierzynska; Concetta Gangemi; Alessandra Renieri; Helen Storey; Frances Flinter

doi:10.2215/CJN.04230321

Guidelines for Genetic Testing and Management of Alport Syndrome

Judy Savige
, Beata S Lipska-Zietkiewicz
, Elizabeth Watson
, Jens Michael Hertz
, Constantinos Deltas
, Francesca Mari
, Pascale Hilbert
, Pavlina Plevova
, Peter Byers
, Agne Cerkauskaite
, Martin Gregory
, Rimante Cerkauskiene
, Danica Galesic Ljubanovic
, Francesca Becherucci
, Carmela Errichiello
, Laura Massella
, Valeria Aiello
, Rachel Lennon
, Louise Hopkinson
, Ania Koziell

Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	143-154
Number of pages	12
Journal	Clinical Journal of the American Society of Nephrology
Volume	17
Issue number	1
Early online date	20 Dec 2021
DOIs	https://doi.org/10.2215/CJN.04230321
Publication status	Published - Jan 2022

Keywords

Alport syndrome
genetic testing
COL4A5
thin basement membrane nephropathy
COL4A3
COL4A4
digenic Alport syndrome
FSGS
kidney cysts

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Savige, J., Lipska-Zietkiewicz, B. S., Watson, E., Hertz, J. M., Deltas, C., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., ... Flinter, F. (2022). Guidelines for Genetic Testing and Management of Alport Syndrome. Clinical Journal of the American Society of Nephrology, 17(1), 143-154. https://doi.org/10.2215/CJN.04230321

@article{8f5ac27046024bc4a4df7188aab3292e,

title = "Guidelines for Genetic Testing and Management of Alport Syndrome",

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, genetic testing, COL4A5, thin basement membrane nephropathy, COL4A3, COL4A4, digenic Alport syndrome, FSGS, kidney cysts",

author = "Judy Savige and Lipska-Zietkiewicz, \{Beata S\} and Elizabeth Watson and Hertz, \{Jens Michael\} and Constantinos Deltas and Francesca Mari and Pascale Hilbert and Pavlina Plevova and Peter Byers and Agne Cerkauskaite and Martin Gregory and Rimante Cerkauskiene and Ljubanovic, \{Danica Galesic\} and Francesca Becherucci and Carmela Errichiello and Laura Massella and Valeria Aiello and Rachel Lennon and Louise Hopkinson and Ania Koziell and Adrian Lungu and Rothe, \{Hansjorg Martin\} and Julia Hoefele and Miriam Zacchia and Martic, \{Tamara Nikuseva\} and Asheeta Gupta and \{van Eerde\}, Albertien and Susie Gear and Samuela Landini and Viviana Palazzo and Laith Al-Rabadi and Kathleen Claes and Anniek Corveleyn and \{Van Hoof\}, Evelien and \{van Geel\}, Micheel and Maggie Williams and Emma Ashton and Hendica Belge and Elisabet Ars and Agnieszka Bierzynska and Concetta Gangemi and Alessandra Renieri and Helen Storey and Frances Flinter",

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year = "2022",

month = jan,

doi = "10.2215/CJN.04230321",

language = "English",

volume = "17",

pages = "143--154",

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Savige, J, Lipska-Zietkiewicz, BS, Watson, E, Hertz, JM, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, DG, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, HM, Hoefele, J, Zacchia, M, Martic, TN, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, 'Guidelines for Genetic Testing and Management of Alport Syndrome', Clinical Journal of the American Society of Nephrology, vol. 17, no. 1, pp. 143-154. https://doi.org/10.2215/CJN.04230321

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T1 - Guidelines for Genetic Testing and Management of Alport Syndrome

AU - Savige, Judy

AU - Lipska-Zietkiewicz, Beata S

AU - Watson, Elizabeth

AU - Hertz, Jens Michael

AU - Deltas, Constantinos

AU - Mari, Francesca

AU - Hilbert, Pascale

AU - Plevova, Pavlina

AU - Byers, Peter

AU - Cerkauskaite, Agne

AU - Gregory, Martin

AU - Cerkauskiene, Rimante

AU - Ljubanovic, Danica Galesic

AU - Becherucci, Francesca

AU - Errichiello, Carmela

AU - Massella, Laura

AU - Aiello, Valeria

AU - Lennon, Rachel

AU - Hopkinson, Louise

AU - Koziell, Ania

AU - Lungu, Adrian

AU - Rothe, Hansjorg Martin

AU - Hoefele, Julia

AU - Zacchia, Miriam

AU - Martic, Tamara Nikuseva

AU - Gupta, Asheeta

AU - van Eerde, Albertien

AU - Gear, Susie

AU - Landini, Samuela

AU - Palazzo, Viviana

AU - Al-Rabadi, Laith

AU - Claes, Kathleen

AU - Corveleyn, Anniek

AU - Van Hoof, Evelien

AU - van Geel, Micheel

AU - Williams, Maggie

AU - Ashton, Emma

AU - Belge, Hendica

AU - Ars, Elisabet

AU - Bierzynska, Agnieszka

AU - Gangemi, Concetta

AU - Renieri, Alessandra

AU - Storey, Helen

AU - Flinter, Frances

PY - 2022/1

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N2 - 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.

AB - 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.

KW - Alport syndrome

KW - genetic testing

KW - COL4A5

KW - thin basement membrane nephropathy

KW - COL4A3

KW - COL4A4

KW - digenic Alport syndrome

KW - FSGS

KW - kidney cysts

UR - https://www.scopus.com/pages/publications/85123287024

U2 - 10.2215/CJN.04230321

DO - 10.2215/CJN.04230321

M3 - Article

C2 - 34930753

SN - 1555-9041

VL - 17

SP - 143

EP - 154

JO - Clinical Journal of the American Society of Nephrology

JF - Clinical Journal of the American Society of Nephrology

IS - 1

ER -

Guidelines for Genetic Testing and Management of Alport Syndrome

Abstract

Keywords

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