Guidelines for Genetic Testing and Management of Alport Syndrome.
| Title: | Guidelines for Genetic Testing and Management of Alport Syndrome. |
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| Authors: | Savige J; Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Victoria, Australia.; Lipska-Zietkiewicz BS; Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.; Watson E; South West Genetic Laboratory Hub, North Bristol Trust, Bristol, United Kingdom.; Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Deltas C; Center of Excellence in Biobanking and Biomedical Research, University of Cyprus Medical School, Nicosia, Cyprus.; Mari F; Department of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.; Hilbert P; Departement de Biologie Moleculaire, Institute de Pathologie et de Genetique, Gosselies, Belgium.; Plevova P; Department of Medical Genetics, University Hospital of Ostrava, Ostrava, Czech Republic.; Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic.; Byers P; Department of Pathology, University of Washington, Seattle, Washington.; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington.; Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Gregory M; Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, Utah.; Cerkauskiene R; Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Ljubanovic DG; Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia.; Becherucci F; Nephrology Unit, Meyer Children's University Hospital, Florence, Italy.; Errichiello C; Nephrology Unit, Meyer Children's University Hospital, Florence, Italy.; Massella L; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, Rome, Italy.; Aiello V; Department of Experimental Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.; Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Hopkinson L; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Koziell A; School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, United Kingdom.; Lungu A; Pediatric Nephrology Department, Fundeni Clinical Institute, Bucharest, Romania.; Rothe HM; Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany.; Hoefele J; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Zacchia M; Nephrology Unit, University of Campania, Naples, Italy.; Martic TN; Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia.; Gupta A; Birmingham Children's Hospital, Birmingham, United Kingdom.; van Eerde A; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Gear S; Alport UK, United Kingdom.; Landini S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio,' University of Florence, Florence, Italy.; Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Al-Rabadi L; Health Sciences Centre, University of Utah, Salt Lake City, Utah.; Claes K; Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.; Corveleyn A; Center for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.; Van Hoof E; Center for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.; van Geel M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Williams M; Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Southmead, United Kingdom.; Ashton E; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, United Kingdom.; Belge H; Institut de Pathologie et de Génétique, Center for Human Genetics, Gosselies, Belgium.; Ars E; Molecular Biology Laboratory, Fundacio Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autonoma de Barcelona, Instituto de Investigación Carlos III, Barcelona, Spain.; Bierzynska A; Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, United Kingdom.; Gangemi C; Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy.; Renieri A; Department of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.; Storey H; Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, United Kingdom.; Flinter F; Department of Clinical Genetics, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom. |
| Source: | Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2022 Jan; Vol. 17 (1), pp. 143-154. Date of Electronic Publication: 2021 Dec 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Language: | English |
| Journal Info: | Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101271570 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-905X (Electronic) Linking ISSN: 15559041 NLM ISO Abbreviation: Clin J Am Soc Nephrol Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2023- : Hagerstown, MD : Wolters Kluwer Health; Original Publication: Washington, D.C. : American Society of Nephrology, c2005- |
| MeSH Terms: | Autoantigens/*genetics ; Collagen Type IV/*genetics ; Genetic Testing/*standards ; Nephritis, Hereditary/*diagnosis ; Nephritis, Hereditary/*genetics ; Nephritis, Hereditary/*therapy; Humans ; Practice Guidelines as Topic |
| 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.; (Copyright © 2022 by the American Society of Nephrology.) |
| Comments: | Erratum in: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):510. doi: 10.2215/CJN.0000000000000095.. (PMID: 37026751) |
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| Grant Information: | UL1 TR002538 United States TR NCATS NIH HHS |
| Contributed Indexing: | Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; FSGS; collagen IV; digenic Alport syndrome; genetic testing; kidney cysts; thin basement membrane nephropathy |
| Substance Nomenclature: | 0 (Autoantigens); 0 (COL4A5 protein, human); 0 (Collagen Type IV); 0 (type IV collagen alpha3 chain) |
| Entry Date(s): | Date Created: 20211221 Date Completed: 20220317 Latest Revision: 20240405 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC8763160 |
| DOI: | 10.2215/CJN.04230321 |
| PMID: | 34930753 |
| Database: | MEDLINE |
Journal Article; Research Support, Non-U.S. Gov't