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 journalArticleAcademicpeer-review

Original languageEnglish
Number of pages12
JournalClinical journal of the American Society of Nephrology
DOIs
Publication statusE-pub ahead of print - 20 Dec 2021

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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