{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:59:31Z","timestamp":1789207171846,"version":"build-2803163510"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objectives<\/jats:title>\n                    <jats:p>\n                      X-linked Alport syndrome (X-AS) is caused by mutations of the\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      gene, which encodes for the collagen IV\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      5 chain (\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design, setting, participants, &amp; measurements<\/jats:title>\n                    <jats:p>\n                      The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4\u201335.1 years); GBM expression of\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      1,\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3, and\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      5(COLIV) chains was assessed by immunofluorescence microscopy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      GBM distribution of the\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      =0.02) and reached an estimated GFR &lt; 90 ml\/min per 1.73 m\n                      <jats:sup>2<\/jats:sup>\n                      at an older age (median age, 27.0 versus 14.9 years;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      =0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3(COLIV) expression by immunofluorescence studies had null or truncating\n                      <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                      mutations, as opposed to none of the 4 tested patients with diffuse\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3(COLIV) chain glomerular distribution.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These results indicate that maintained expression of the\n                      <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                      3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome.\n                    <\/jats:p>\n      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