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Guidelines for Genetic Testing and Management of Alport Syndrome
J. Savige, BS. Lipska-Zietkiewicz, E. Watson, JM. Hertz, C. Deltas, F. Mari, P. Hilbert, P. Plevova, P. Byers, A. Cerkauskaite, M. Gregory, R. Cerkauskiene, DG. Ljubanovic, F. Becherucci, C. Errichiello, L. Massella, V. Aiello, R. Lennon, L....
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
Free Medical Journals
from 2006 to 1 year ago
PubMed Central
from 2008 to 1 year ago
Europe PubMed Central
from 2008 to 1 year ago
Open Access Digital Library
from 2006-01-01
PubMed
34930753
DOI
10.2215/cjn.04230321
Knihovny.cz E-resources
- MeSH
- Autoantigens genetics MeSH
- Nephritis, Hereditary diagnosis genetics therapy MeSH
- Genetic Testing standards MeSH
- Collagen Type IV genetics MeSH
- Humans MeSH
- Practice Guidelines as Topic MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
Birmingham Children's Hospital Birmingham United Kingdom
Bristol Genetics Laboratory Pathology Sciences Southmead Hospital Southmead United Kingdom
Bristol Renal Unit Bristol Medical School University of Bristol Bristol United Kingdom
Center for Human Genetics University Hospitals and Katholieke Universiteit Leuven Leuven Belgium
Centre for Nephrology and Metabolic Disorders Weisswasser Germany
Centre for Rare Diseases and Clinical Genetics Unit Medical University of Gdansk Gdansk Poland
Departement de Biologie Moleculaire Institute de Pathologie et de Genetique Gosselies Belgium
Department of Biology School of Medicine University of Zagreb Zagreb Croatia
Department of Biomedical Sciences University Hospital of Ostrava Ostrava Czech Republic
Department of Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands
Department of Clinical Genetics Odense University Hospital Odense Denmark
Department of Genetics University Medical Center Utrecht The Netherlands
Department of Medical Biotechnology Medical Genetics University of Siena Siena Italy
Department of Medical Genetics University Hospital of Ostrava Ostrava Czech Republic
Department of Medicine The University of Melbourne Parkville Victoria Australia
Department of Medicine University of Washington Seattle Washington
Department of Pathology University of Washington Seattle Washington
Division of Nephrology and Dialysis Bambino Gesù Children's Hospital Rome Italy
Division of Nephrology and Dialysis University Hospital of Verona Verona Italy
Division of Nephrology Department of Medicine University of Utah Health Salt Lake City Utah
Health Sciences Centre University of Utah Salt Lake City Utah
Institut de Pathologie et de Génétique Center for Human Genetics Gosselies Belgium
Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania
Institute of Human Genetics Technical University of Munich Munich Germany
Medical Genetics Unit Meyer Children's University Hospital Florence Italy
Molecular Genetics Viapath Laboratories Guy's Hospital London United Kingdom
Nephrology Unit Meyer Children's University Hospital Florence Italy
Nephrology Unit University of Campania Naples Italy
North East Thames Regional Genetics Laboratory Great Ormond Street Hospital London United Kingdom
Pediatric Nephrology Department Fundeni Clinical Institute Bucharest Romania
South West Genetic Laboratory Hub North Bristol Trust Bristol United Kingdom
References provided by Crossref.org
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