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Autor
Aiello, Valeria 1 Al-Rabadi, Laith 1 Ars, Elisabet 1 Ashton, Emma 1 Becherucci, Francesca 1 Belge, Hendica 1 Bierzynska, Agnieszka 1 Byers, Peter 1 Cerkauskaite, Agne 1 Cerkauskiene, Rimante 1 Claes, Kathleen 1 Corveleyn, Anniek 1 Deltas, Constantinos 1 Errichiello, Carmela 1 Flinter, Frances 1 Gangemi, Concetta 1 Gear, Susie 1 Gregory, Martin 1 Gupta, Asheeta 1 Hertz, Jens Michael 1
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Pracoviště
Alport UK United Kingdom 1 Birmingham Children's Hospital Birmin... 1 Bristol Genetics Laboratory Pathology... 1 Bristol Renal Unit Bristol Medical Sc... 1 Center for Human Genetics University ... 1 Center of Excellence in Biobanking an... 1 Centre for Nephrology and Metabolic D... 1 Centre for Rare Diseases and Clinical... 1 Clinic of Pediatrics Institute of Cli... 1 Departement de Biologie Moleculaire I... 1 Department of Biology School of Medic... 1 Department of Biomedical Sciences Uni... 1 Department of Clinical Genetics Guy's... 1 Department of Clinical Genetics Maast... 1 Department of Clinical Genetics Odens... 1 Department of Experimental Diagnostic... 1 Department of Genetics University Med... 1 Department of Medical Biotechnology M... 1 Department of Medical Genetics Univer... 1 Department of Medicine The University... 1
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Autor
Aiello, Valeria 1 Al-Rabadi, Laith 1 Ars, Elisabet 1 Ashton, Emma 1 Becherucci, Francesca 1 Belge, Hendica 1 Bierzynska, Agnieszka 1 Byers, Peter 1 Cerkauskaite, Agne 1 Cerkauskiene, Rimante 1 Claes, Kathleen 1 Corveleyn, Anniek 1 Deltas, Constantinos 1 Errichiello, Carmela 1 Flinter, Frances 1 Gangemi, Concetta 1 Gear, Susie 1 Gregory, Martin 1 Gupta, Asheeta 1 Hertz, Jens Michael 1
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Pracoviště
Alport UK United Kingdom 1 Birmingham Children's Hospital Birmin... 1 Bristol Genetics Laboratory Pathology... 1 Bristol Renal Unit Bristol Medical Sc... 1 Center for Human Genetics University ... 1 Center of Excellence in Biobanking an... 1 Centre for Nephrology and Metabolic D... 1 Centre for Rare Diseases and Clinical... 1 Clinic of Pediatrics Institute of Cli... 1 Departement de Biologie Moleculaire I... 1 Department of Biology School of Medic... 1 Department of Biomedical Sciences Uni... 1 Department of Clinical Genetics Guy's... 1 Department of Clinical Genetics Maast... 1 Department of Clinical Genetics Odens... 1 Department of Experimental Diagnostic... 1 Department of Genetics University Med... 1 Department of Medical Biotechnology M... 1 Department of Medical Genetics Univer... 1 Department of Medicine The University... 1
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NLK
Free Medical Journals
od 2006 do Před 1 rokem
PubMed Central
od 2008 do Před 1 rokem
Europe PubMed Central
od 2008 do Před 1 rokem
Open Access Digital Library
od 2006-01-01
PubMed
34930753
DOI
10.2215/cjn.04230321
Knihovny.cz E-zdroje
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.
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