Guidelines for Genetic Testing and Management of Alport Syndrome

J. Savige; B.S. Lipska-Zietkiewicz; E. Watson; J.M. Hertz; C. Deltas; F. Mari; P. Hilbert; P. Plevova; P. Byers; A. Cerkauskaite; M. Gregory; R. Cerkauskiene; D.G. Ljubanovic; F. Becherucci; C. Errichiello; L. Massella; V. Aiello; R. Lennon; L. Hopkinson; A. Koziell; A. Lungu; H.M. Rothe; J. Hoefele; M. Zacchia; T.N. Martic; A. Gupta; A. van Eerde; S. Gear; S. Landini; V. Palazzo; L. al-Rabadi; K. Claes; A. Corveleyn; E. Van Hoof; M. van Geel; M. Williams; E. Ashton; H. Belge; E. Ars; A. Bierzynska; C. Gangemi; A. Renieri; H. Storey; F. Flinter

doi:10.2215/cjn.04230321

Guidelines for Genetic Testing and Management of Alport Syndrome

J. Savige^*, B.S. Lipska-Zietkiewicz, E. Watson, J.M. Hertz, C. Deltas, F. Mari, P. Hilbert, P. Plevova, P. Byers, A. Cerkauskaite, M. Gregory, R. Cerkauskiene, D.G. Ljubanovic, F. Becherucci, C. Errichiello, L. Massella, V. Aiello, R. Lennon, L. Hopkinson, A. KoziellA. Lungu, H.M. Rothe, J. Hoefele, M. Zacchia, T.N. Martic, A. Gupta, A. van Eerde, S. Gear, S. Landini, V. Palazzo, L. al-Rabadi, K. Claes, A. Corveleyn, E. Van Hoof, M. van Geel, M. Williams, E. Ashton, H. Belge, E. Ars, A. Bierzynska, C. Gangemi, A. Renieri, H. Storey, F. Flinter

^*Corresponding author for this work

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
thin basement membrane nephropathy
collagen IV
digenic Alport syndrome
FSGS
kidney cysts
GENOTYPE-PHENOTYPE CORRELATIONS
GLOMERULAR-BASEMENT-MEMBRANE
KIDNEY-TRANSPLANTATION
DIGENIC INHERITANCE
RENAL-FAILURE
COL4A3/COL4A4 MUTATIONS
MICROSCOPIC HEMATURIA
FAMILIAL HEMATURIA
SEQUENCE VARIANTS
NATURAL-HISTORY

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10.2215/cjn.04230321

Cite this

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{774449b9ba5a487a94d21c878a910c7d,

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, thin basement membrane nephropathy, collagen IV, digenic Alport syndrome, FSGS, kidney cysts, GENOTYPE-PHENOTYPE CORRELATIONS, GLOMERULAR-BASEMENT-MEMBRANE, KIDNEY-TRANSPLANTATION, DIGENIC INHERITANCE, RENAL-FAILURE, COL4A3/COL4A4 MUTATIONS, MICROSCOPIC HEMATURIA, FAMILIAL HEMATURIA, SEQUENCE VARIANTS, NATURAL-HISTORY",

author = "J. Savige and B.S. Lipska-Zietkiewicz and E. Watson and J.M. Hertz and C. Deltas and F. Mari and P. Hilbert and P. Plevova and P. Byers and A. Cerkauskaite and M. Gregory and R. Cerkauskiene and D.G. Ljubanovic and F. Becherucci and C. Errichiello and L. Massella and V. Aiello and R. Lennon and L. Hopkinson and A. Koziell and A. Lungu and H.M. Rothe and J. Hoefele and M. Zacchia and T.N. Martic and A. Gupta and {van Eerde}, A. and S. Gear and S. Landini and V. Palazzo and L. al-Rabadi and K. Claes and A. Corveleyn and {Van Hoof}, E. and {van Geel}, M. and M. Williams and E. Ashton and H. Belge and E. Ars and A. Bierzynska and C. Gangemi and A. Renieri and H. Storey and F. Flinter",

note = "Publisher Copyright: {\textcopyright} 2022 by the American Society of Nephrology.",

year = "2022",

month = jan,

doi = "10.2215/cjn.04230321",

language = "English",

volume = "17",

pages = "143--154",

journal = "Clinical journal of the American Society of Nephrology",

issn = "1555-9041",

publisher = "American Society of Nephrology",

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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

TY - JOUR

T1 - Guidelines for Genetic Testing and Management of Alport Syndrome

AU - Savige, J.

AU - Lipska-Zietkiewicz, B.S.

AU - Watson, E.

AU - Hertz, J.M.

AU - Deltas, C.

AU - Mari, F.

AU - Hilbert, P.

AU - Plevova, P.

AU - Byers, P.

AU - Cerkauskaite, A.

AU - Gregory, M.

AU - Cerkauskiene, R.

AU - Ljubanovic, D.G.

AU - Becherucci, F.

AU - Errichiello, C.

AU - Massella, L.

AU - Aiello, V.

AU - Lennon, R.

AU - Hopkinson, L.

AU - Koziell, A.

AU - Lungu, A.

AU - Rothe, H.M.

AU - Hoefele, J.

AU - Zacchia, M.

AU - Martic, T.N.

AU - Gupta, A.

AU - van Eerde, A.

AU - Gear, S.

AU - Landini, S.

AU - Palazzo, V.

AU - al-Rabadi, L.

AU - Claes, K.

AU - Corveleyn, A.

AU - Van Hoof, E.

AU - van Geel, M.

AU - Williams, M.

AU - Ashton, E.

AU - Belge, H.

AU - Ars, E.

AU - Bierzynska, A.

AU - Gangemi, C.

AU - Renieri, A.

AU - Storey, H.

AU - Flinter, F.

PY - 2022/1

Y1 - 2022/1

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 - thin basement membrane nephropathy

KW - collagen IV

KW - digenic Alport syndrome

KW - FSGS

KW - kidney cysts

KW - GENOTYPE-PHENOTYPE CORRELATIONS

KW - GLOMERULAR-BASEMENT-MEMBRANE

KW - KIDNEY-TRANSPLANTATION

KW - DIGENIC INHERITANCE

KW - RENAL-FAILURE

KW - COL4A3/COL4A4 MUTATIONS

KW - MICROSCOPIC HEMATURIA

KW - FAMILIAL HEMATURIA

KW - SEQUENCE VARIANTS

KW - NATURAL-HISTORY

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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