Guidelines for genetic testing and management of Alport syndrome
| Autor: | 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 |
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| Přispěvatelé: | Savige, J, Lipska-Zietkiewicz, B, 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., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
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 |
| Zdroj: | 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 |
| ISSN: | 1555-9041 |
| DOI: | 10.2215/CJN.04230321 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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