{"id":1535,"date":"2020-09-12T14:46:31","date_gmt":"2020-09-12T14:46:31","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1535"},"modified":"2026-02-23T23:46:57","modified_gmt":"2026-02-23T23:46:57","slug":"systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/","title":{"rendered":"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig)"},"content":{"rendered":"<p>Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we provide the first systematic evaluation of olfaction in children and adolescents displaying various kidney diseases including Bardet-Biedl syndrome, nephronophthisis-related ciliopathies and polycystic kidney diseases. We demonstrate that a reduced sense of smell is part of the clinical spectrum of different renal disorders and differs significantly depending on the genetic background. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/09\/11\/jmedgenet-2020-107192\">https:\/\/jmg.bmj.com\/content\/early\/2020\/09\/11\/jmedgenet-2020-107192<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/jmg_23072020\/\" rel=\"attachment wp-att-1536\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1536\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-300x189.jpg\" alt=\"\" width=\"300\" height=\"189\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-300x189.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-1024x644.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-768x483.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-1536x965.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-640x402.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020.jpg 1790w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/\">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-1535","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - 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\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-09-12T14:46:31+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:46:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1790\" \/>\n\t<meta property=\"og:image:height\" content=\"1125\" \/>\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\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\\\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig)\",\"datePublished\":\"2020-09-12T14:46:31+00:00\",\"dateModified\":\"2026-02-23T23:46:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/\"},\"wordCount\":132,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/09\\\/JMG_23072020-300x189.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/12\\\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\\\/\",\"name\":\"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\\\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/","og_locale":"en_US","og_type":"article","og_title":"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - JMG Contact blog","og_description":"Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. 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Here, we [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/","og_site_name":"JMG Contact blog","article_published_time":"2020-09-12T14:46:31+00:00","article_modified_time":"2026-02-23T23:46:57+00:00","og_image":[{"width":1790,"height":1125,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig)","datePublished":"2020-09-12T14:46:31+00:00","dateModified":"2026-02-23T23:46:57+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/"},"wordCount":132,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/JMG_23072020-300x189.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/12\/systematic-evaluation-of-olfaction-in-patients-with-hereditary-cystic-kidney-diseases-renal-ciliopathies\/","name":"Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases\/renal ciliopathies (Contributed by Dr. Jens K\u00f6nig) - 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