{"id":226,"date":"2011-11-23T20:45:57","date_gmt":"2011-11-23T20:45:57","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=226"},"modified":"2011-11-23T20:45:57","modified_gmt":"2011-11-23T20:45:57","slug":"neonatal-onset-autosomal-dominant-polycystic-kidney-disease-adpkd-in-a-patient-homozygous-for-a-pkd2-missense-mutation-due-to-uniparental-disomy","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2011\/11\/23\/neonatal-onset-autosomal-dominant-polycystic-kidney-disease-adpkd-in-a-patient-homozygous-for-a-pkd2-missense-mutation-due-to-uniparental-disomy\/","title":{"rendered":"Neonatal onset Autosomal Dominant Polycystic Kidney Disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy"},"content":{"rendered":"<p>Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by progressive development of fluid-filled cysts in both kidneys. Cyst formation causes chronic renal failure beyond mid-life eventually leading to end-stage renal failure. Heterozygous mutations in the polycystic kidney disease 1 (<em>PKD1)<\/em> gene and polycystic kidney disease 2 (<em>PKD2)<\/em> gene account for almost all cases and although the clinical manifestations overlap, a mutation in <em>PKD2<\/em> is associated with a milder disease than a mutation in <em>PKD1<\/em>. Recently, several <em>PKD1<\/em>-patients have been described with severe (<em>in utero<\/em>) renal cystic disease due to a second <em>PKD1<\/em>-mutation that mildly reduces function of the protein or carrying two of those mild <em>PKD1<\/em>-mutations. At a heterozygous state they produce no or a very mild phenotype. \u00a0Here, we report for the first time a patient with neonatal-onset of PKD caused by a homozygous <em>PKD2<\/em> missense mutation.\u00a0 The mutation is inherited from the mother who carries one mutation and does not have renal cystic disease. Due to a complex genomic rearrangement (uniparental disomy)\u00a0 the mutation is transmitted on both chromosomes 4. (By Dr. Dorien Peters, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/11\/22\/jmedgenet-2011-100452.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/11\/22\/jmedgenet-2011-100452.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by progressive development of fluid-filled cysts in both kidneys. Cyst formation causes chronic renal failure beyond mid-life eventually leading to end-stage renal failure. Heterozygous mutations in the polycystic kidney disease 1 (PKD1) gene and polycystic kidney disease 2 (PKD2) gene account for almost all cases and although [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2011\/11\/23\/neonatal-onset-autosomal-dominant-polycystic-kidney-disease-adpkd-in-a-patient-homozygous-for-a-pkd2-missense-mutation-due-to-uniparental-disomy\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-226","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/226","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=226"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/226\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=226"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=226"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=226"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}