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Guidelines for genetic testing and management of Alport syndrome
- Source :
- Clinical Journal of the American Society of Nephrology, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, Universidad Europea (UEM), Clin J Am Soc Nephrol, Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology, 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, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, 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 American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
- Publication Year :
- 2022
-
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.
- Subjects :
- Feature
Collagen Type IV
KIDNEY-TRANSPLANTATION
RENAL-FAILURE
MICROSCOPIC HEMATURIA
Epidemiology
Nephritis, Hereditary
Alport syndrome
COL4A3
COL4A4
COL4A5
FSGS
collagen IV
digenic Alport syndrome
genetic testing
kidney cysts
thin basement membrane nephropathy
Critical Care and Intensive Care Medicine
urologic and male genital diseases
Autoantigens
DIGENIC INHERITANCE
SEQUENCE VARIANTS
Humans
GENOTYPE-PHENOTYPE CORRELATIONS
Transplantation
urogenital system
COL4A3/COL4A4 MUTATIONS
GLOMERULAR-BASEMENT-MEMBRANE
NATURAL-HISTORY
female genital diseases and pregnancy complications
Nephrology
Practice Guidelines as Topic
FAMILIAL HEMATURIA
Subjects
Details
- Language :
- English
- ISSN :
- 15559041
- Database :
- OpenAIRE
- Journal :
- Clinical Journal of the American Society of Nephrology, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, Universidad Europea (UEM), Clin J Am Soc Nephrol, Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology, 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, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, 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 American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
- Accession number :
- edsair.doi.dedup.....0851184c2730de09da5d744112eb31e8