{"id":862,"date":"2016-02-09T19:41:22","date_gmt":"2016-02-09T19:41:22","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=862"},"modified":"2026-02-25T00:16:37","modified_gmt":"2026-02-25T00:16:37","slug":"genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/09\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\/","title":{"rendered":"Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel (Contributed by Dr. John Sayer)"},"content":{"rendered":"<p>Cystic kidney disease is an inherited condition that can present before birth, using antenatal ultrasound scanning. The finding of cystic kidney disease is important as it can be associated with other developmental problems affecting the brain, heart and skeleton. The genetic changes underlying cystic kidney disease are numerous. Here we have used a panel of genetic tests in order to provide a rapid genetic diagnosis in 46 cases of antenatal cystic kidney disease, with a genetic cause being found in 28 cases (60%). A genetic diagnosis aids management of the patient and allows genetic counselling to be given. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/02\/09\/jmedgenet-2015-103469\">http:\/\/jmg.bmj.com\/content\/early\/2016\/02\/09\/jmedgenet-2015-103469<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/02\/kidney_uss.jpg\" rel=\"attachment wp-att-863\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-863\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/02\/kidney_uss-300x231.jpg\" alt=\"kidney_uss\" width=\"300\" height=\"231\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/02\/kidney_uss-300x231.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/02\/kidney_uss.jpg 575w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>antenatal ultrasound of kidneys showing very abnormal cystic change within both kidneys<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cystic kidney disease is an inherited condition that can present before birth, using antenatal ultrasound scanning. The finding of cystic kidney disease is important as it can be associated with other developmental problems affecting the brain, heart and skeleton. The genetic changes underlying cystic kidney disease are numerous. Here we have used a panel of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/09\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\/\">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-862","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel (Contributed by Dr. John Sayer) - 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\/2016\/02\/09\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel (Contributed by Dr. John Sayer) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cystic kidney disease is an inherited condition that can present before birth, using antenatal ultrasound scanning. The finding of cystic kidney disease is important as it can be associated with other developmental problems affecting the brain, heart and skeleton. The genetic changes underlying cystic kidney disease are numerous. Here we have used a panel of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/09\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-02-09T19:41:22+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:16:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/02\/kidney_uss.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"575\" \/>\n\t<meta property=\"og:image:height\" content=\"443\" \/>\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\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel (Contributed by Dr. John Sayer)\",\"datePublished\":\"2016-02-09T19:41:22+00:00\",\"dateModified\":\"2026-02-25T00:16:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/\"},\"wordCount\":140,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2016\\\/02\\\/kidney_uss-300x231.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/09\\\/genetic-spectrum-of-saudi-arabian-patients-with-antenatal-cystic-kidney-disease-and-ciliopathy-phenotypes-using-a-targeted-renal-gene-panel\\\/\",\"name\":\"Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel (Contributed by Dr. John Sayer) - 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