{"id":1854,"date":"2023-05-24T18:52:18","date_gmt":"2023-05-24T18:52:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1854"},"modified":"2026-02-23T00:11:37","modified_gmt":"2026-02-23T00:11:37","slug":"genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/24\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\/","title":{"rendered":"Genetic features and kidney morphological changes in women with X-linked Alport syndrome (Contributed by Professor Zhi-Hong Liu)"},"content":{"rendered":"<p>X-linked Alport syndrome (XLAS) is an hereditary kidney disease caused by the pathogenic variants in COL4A5 gene and usually has heterogeneous phenotypes, especially in females. Here, we collected the genetic, clinical, and pathological data from a cohort of XLAS and conducted a comparative analysis of female and male patients. We found a higher incidence of de novo variants in females compared to males, and co-inherited podocyte-related genes were also present in some females. In addition, we explored the association between the degree of glomerular basement membrane lesions and the decline in kidney function, showing its value in assessing the prognosis of XLAS. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/05\/24\/jmg-2023-109221\">https:\/\/jmg.bmj.com\/content\/early\/2023\/05\/24\/jmg-2023-109221<\/a> )<\/p>\n<p>The authors:<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/24\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\/jmg-2023-109221-r2-blog-summary\/\" rel=\"attachment wp-att-1856\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1856\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-225x300.jpg\" alt=\"\" width=\"225\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-225x300.jpg 225w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-768x1024.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-1152x1536.jpg 1152w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-1536x2048.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-640x853.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-scaled.jpg 1920w\" sizes=\"auto, (max-width: 225px) 100vw, 225px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>X-linked Alport syndrome (XLAS) is an hereditary kidney disease caused by the pathogenic variants in COL4A5 gene and usually has heterogeneous phenotypes, especially in females. Here, we collected the genetic, clinical, and pathological data from a cohort of XLAS and conducted a comparative analysis of female and male patients. We found a higher incidence of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/24\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1854","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic features and kidney morphological changes in women with X-linked Alport syndrome (Contributed by Professor Zhi-Hong Liu) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/24\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic features and kidney morphological changes in women with X-linked Alport syndrome (Contributed by Professor Zhi-Hong Liu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"X-linked Alport syndrome (XLAS) is an hereditary kidney disease caused by the pathogenic variants in COL4A5 gene and usually has heterogeneous phenotypes, especially in females. Here, we collected the genetic, clinical, and pathological data from a cohort of XLAS and conducted a comparative analysis of female and male patients. We found a higher incidence of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/24\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-05-24T18:52:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:11:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/jmg-2023-109221.R2-blog-summary-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"2560\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic features and kidney morphological changes in women with X-linked Alport syndrome (Contributed by Professor Zhi-Hong Liu)\",\"datePublished\":\"2023-05-24T18:52:18+00:00\",\"dateModified\":\"2026-02-23T00:11:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/05\\\/jmg-2023-109221.R2-blog-summary-225x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/24\\\/genetic-features-and-kidney-morphological-changes-in-women-with-x-linked-alport-syndrome\\\/\",\"name\":\"Genetic features and kidney morphological changes in women with X-linked Alport syndrome (Contributed by Professor Zhi-Hong Liu) - 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