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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Alport syndrome" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22265/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Alport syndrome" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22265/" /><meta name="description" content="Alport syndrome (AS) is a genetic disease in which a collagen mutation affects the kidneys, the ears, and the eyes. The syndrome was named for Dr. Alport who in 1927 described a British family in which many members developed renal disease as well as deafness. He noted that affected men in the family died as a result of their kidney problems, whereas females were less affected and lived until old age." /><meta name="og:title" content="Alport syndrome" /><meta name="og:type" content="book" /><meta name="og:description" content="Alport syndrome (AS) is a genetic disease in which a collagen mutation affects the kidneys, the ears, and the eyes. The syndrome was named for Dr. Alport who in 1927 described a British family in which many members developed renal disease as well as deafness. He noted that affected men in the family died as a result of their kidney problems, whereas females were less affected and lived until old age." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22265/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/alportsyndrome/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22265/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/gnd/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" alt="Cover of Genes and Disease" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>Genes and Disease [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK22265_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK22265_dtls__"><div>National Center for Biotechnology Information (US).</div><div>Bethesda (MD): <a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>; 1998-.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gnd/">Contents</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gnd/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/alpha1antitrypsindeficiency/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/alzheimerdisease/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22265_"><span class="title" itemprop="name">Alport syndrome</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><div class="graphic"><img src="/books/NBK22265/bin/alport.jpg" alt="Image alport.jpg" /></div><p>Alport syndrome (AS) is a genetic disease in which a collagen mutation affects the kidneys, the ears, and the eyes. The syndrome was named for Dr. Alport who in 1927 described a British family in which many members developed renal disease as well as deafness. He noted that affected men in the family died as a result of their kidney problems, whereas females were less affected and lived until old age.</p><p>It is now known that most cases of AS are caused by a mutation in the collagen gene <i>COL4A5</i>. This gene encodes for the alpha-5 chain of collagen type IV and is located on the X chromosome. Because women have two X chromosomes (XX), affected women usually have one normal copy and one abnormal copy of the gene. Men only have one copy of the X chromosome (XY). If they inherit the <i>COL4A5</i> mutation, this abnormal copy of the gene is the only copy they have and the effects are more severe.</p><p>Type IV collagen is found in basement membranes (BM), which are selective barriers between cells. In the kidney, the glomerular BM filters waste products into the urine while keeping useful molecules within the blood stream. In AS, the abnormal collagen disrupts this filter, leading to the loss of proteins and red blood cells into the urine. Blood in the urine (hematuria) is a sign common to all types of AS. In the ear, abnormal collagen in the cochlea results in a progressive deafness in which the ability to hear high tones is lost first. Abnormal collagen can also affect the lens of the eye.</p><p>Currently, renal failure due to AS is treated by dialysis or, for some, renal transplantation. However, gene therapy may one day be able to provide a cure for AS by replacing the faulty <i>COL4A5</i> gene.</p><div id="alportsyndrome.disease-categories"><h2 id="_alportsyndrome_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A56/">See other Male-Specific Diseases</a>
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<div id="ncbi_share_book"><a href="#" class="ncbi_share" data-ncbi_share_config="popup:false,shorten:true" ref="id=NBK22265&db=books">Share</a></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK22265/?report=reader">PubReader</a></li><li><a href="/books/NBK22265/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK22265" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK22265" style="display:none" title="Cite this Page"><div class="bk_tt">National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Alport syndrome.<span class="bk_cite_avail"></span></div></div></li><li><a href="/books/NBK22265/pdf/Bookshelf_NBK22265.pdf">PDF version of this page</a> (61K)</li><li><a href="/books/n/gnd/pdf/">PDF version of this title</a> (3.6M)</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Gene sequence</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="/mapview/map_search.cgi?chr=hum_chr.inf&query=alport+syndrome" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">Genome view</a> see gene locations</li><li>
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<a href="/gene/9949" ref="pagearea=document-links&targetsite=entrez&targetcat=link&targettype=gene">Entrez Gene</a> collection of gene-related information</li><li>
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<a href="/sutils/blink.cgi?pid=461675&org=1" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">BLink</a> related sequences in different organisms </li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>The literature</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="https://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=PureSearch&db=PubMed&details_term=alport+syndrome%20AND%20%22pubmed%20pmc%22%5BFilter%5D" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">Research articles</a> online full text</li><li>
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<a href="https://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=PureSearch&db=books&details_term=alport+syndrome" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">Books</a> online books section</li><li>
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<a href="/entrez/dispomim.cgi?id=301050" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">OMIM</a> catalog of human genes and disorders</li><li>
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<a href="/books/n/gene/alport/">GeneReviews</a> a medical genetics resource</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Websites</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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<a href="http://www.kidney.org/general/atoz/content/alportsyn.html" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">National Kidney Foundation</a> further information</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=1931062" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67c8315efeee5b00ac4b666c">Alport syndrome - Genes and Disease</a><div class="ralinkpop offscreen_noflow">Alport syndrome - Genes and Disease<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_qry two_line"><a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67c83155b70fbb1960564698">Gene Links for Books (Select 1489186) <span class="number">(3)</span></a><div class="tertiary">Gene</div></li><li class="ra_qry two_line"><a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67c83152b70fbb19605630c6">PMC Links for Books (Select 1489186) <span class="number">(8)</span></a><div class="tertiary">PMC</div></li><li class="ra_qry two_line"><a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67c831516d1ec11b6faef396">OMIM Links for Books (Select 1489186) <span class="number">(4)</span></a><div class="tertiary">OMIM</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67c83150d5edb449bf93e6d8">Thalassemia</a><div class="ralinkpop offscreen_noflow">Thalassemia<div class="brieflinkpopdesc"></div></div><div class="tertiary">MedGen</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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