eprintid: 10205790 rev_number: 8 eprint_status: archive userid: 699 dir: disk0/10/20/57/90 datestamp: 2025-03-10 10:25:06 lastmod: 2025-03-10 10:25:06 status_changed: 2025-03-10 10:25:06 type: article metadata_visibility: show sword_depositor: 699 creators_name: Torra, Roser creators_name: Lipska-Ziętkiewicz, Beata creators_name: Acke, Frederic creators_name: Antignac, Corinne creators_name: Becker, Jan Ulrich creators_name: Cornec-Le Gall, Emilie creators_name: van Eerde, Albertien M creators_name: Feltgen, Nicolas creators_name: Ferrari, Rosella creators_name: Gale, Daniel P creators_name: Gross, Oliver creators_name: Haeberle, Stefanie creators_name: Wlodkowski, Tanja creators_name: Heidet, Laurence creators_name: Lennon, Rachel creators_name: Massella, Laura creators_name: Topaloglu, Rezan creators_name: Pfau, Kristina creators_name: Del Prado Venegas Pizarro, Maria creators_name: Zealey, Heidi creators_name: ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders, title: Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN ispublished: pub divisions: UCL divisions: B02 divisions: C10 divisions: D17 divisions: G93 keywords: COL4A3, COL4A4, COL4A5, Alport syndrome, collagen IV, glomerular basement membrane, haematuria note: © The Author(s) 2024. Published by Oxford University Press on behalf of the ERA. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. abstract: Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions. The experts formulated recommendations and formally graded them at a consensus meeting with input from patient representatives and a voting panel of nephrologists representing all regions of the world. Genetic diagnostics comprising joint analysis of COL4A3/4/5 genes is the key diagnostic test already during the initial evaluation of an individual presenting with persistent haematuria, proteinuria, kidney failure of unknown origin, focal segmental sclerosis of unknown origin and possibly cystic kidney disease. Early renin-angiotensin system blockade is the standard of care therapy; sodium-glucose cotransporter-2 inhibitors may be added in adults with proteinuria and chronic kidney disease. Relatives with heterozygous COL4A3/4/5 variants should only be considered as the last possible resource for living kidney donation. This guideline provides guidance for the diagnosis and management of individuals with pathogenic variants in COL4A3/4/5 genes. date: 2024-12-02 date_type: published publisher: Oxford University Press (OUP) official_url: https://doi.org/10.1093/ndt/gfae265 oa_status: green full_text_type: other language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 2345462 doi: 10.1093/ndt/gfae265 medium: Print-Electronic pii: 7915083 lyricists_name: Gale, Daniel lyricists_id: DGALE18 actors_name: Gale, Daniel actors_id: DGALE18 actors_role: owner full_text_status: public publication: Nephrology Dialysis Transplantation article_number: gfae265 event_location: England issn: 0931-0509 citation: Torra, Roser; Lipska-Ziętkiewicz, Beata; Acke, Frederic; Antignac, Corinne; Becker, Jan Ulrich; Cornec-Le Gall, Emilie; van Eerde, Albertien M; ... ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders; + view all <#> Torra, Roser; Lipska-Ziętkiewicz, Beata; Acke, Frederic; Antignac, Corinne; Becker, Jan Ulrich; Cornec-Le Gall, Emilie; van Eerde, Albertien M; Feltgen, Nicolas; Ferrari, Rosella; Gale, Daniel P; Gross, Oliver; Haeberle, Stefanie; Wlodkowski, Tanja; Heidet, Laurence; Lennon, Rachel; Massella, Laura; Topaloglu, Rezan; Pfau, Kristina; Del Prado Venegas Pizarro, Maria; Zealey, Heidi; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders; - view fewer <#> (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrology Dialysis Transplantation , Article gfae265. 10.1093/ndt/gfae265 <https://doi.org/10.1093/ndt%2Fgfae265>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10205790/1/2024%20Torra%20ERA%20Alport%20Guiideline%20NDT%20Submitted%20version.pdf