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Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; [...]

Guidelines for Genetic Testing and Management of Alport Syndrome

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  • Medientyp: E-Artikel
  • Titel: Guidelines for Genetic Testing and Management of Alport Syndrome
  • Beteiligte: Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; [...]
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 2022
  • Erschienen in: Clinical Journal of the American Society of Nephrology
  • Sprache: Englisch
  • DOI: 10.2215/cjn.04230321
  • ISSN: 1555-9041; 1555-905X
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>Genetic testing for pathogenic <jats:italic toggle="yes">COL4A3–5</jats:italic> 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 <jats:italic toggle="yes">COL4A3</jats:italic> or <jats:italic toggle="yes">COL4A4</jats:italic> is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that <jats:italic toggle="yes">COL4A3</jats:italic> or <jats:italic toggle="yes">COL4A4</jats:italic> heterozygotes do not act as kidney donors. Testing for variants in the <jats:italic toggle="yes">COL4A3–COL4A5</jats:italic> 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.</jats:p>
  • Zugangsstatus: Freier Zugang