{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:09:01Z","timestamp":1793261341507,"version":"4.5.0"},"reference-count":83,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["CJASN"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>\n                    Genetic testing for pathogenic\n                    <jats:italic toggle=\"yes\">COL4A3\u20135<\/jats:italic>\n                    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\n                    <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                    or\n                    <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                    is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that\n                    <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                    or\n                    <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                    heterozygotes do not act as kidney donors. Testing for variants in the\n                    <jats:italic toggle=\"yes\">COL4A3\u2013COL4A5<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.2215\/cjn.04230321","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T22:40:15Z","timestamp":1640040015000},"page":"143-154","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":162,"title":["Guidelines for Genetic Testing and Management of Alport Syndrome"],"prefix":"10.2215","volume":"17","author":[{"given":"Judy","family":"Savige","sequence":"first","affiliation":[{"name":"Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Victoria, 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