{"id":3463,"date":"2015-05-13T07:29:14","date_gmt":"2015-05-13T06:29:14","guid":{"rendered":"https:\/\/perruchenautomne.eu\/wordpress\/?p=3463"},"modified":"2015-05-13T07:29:14","modified_gmt":"2015-05-13T06:29:14","slug":"penser-a-des-mutations-dadck4-devant-une-glomerulopathie-commencant-a-ladolescence","status":"publish","type":"post","link":"https:\/\/perruchenautomne.eu\/wordpress\/2015\/05\/13\/penser-a-des-mutations-dadck4-devant-une-glomerulopathie-commencant-a-ladolescence\/","title":{"rendered":"Penser \u00e0 des mutations d&rsquo;ADCK4 devant une glom\u00e9rulopathie commen\u00e7ant \u00e0 l&rsquo;adolescence"},"content":{"rendered":"<p><a href=\"http:\/\/jasn.asnjournals.org\/content\/early\/2015\/05\/12\/ASN.2014121240\/F1.expansion.html\"><img decoding=\"async\" class=\" size-full aligncenter\" src=\"http:\/\/jasn.asnjournals.org\/content\/early\/2015\/05\/12\/ASN.2014121240\/F1.medium.gif\" alt=\"\" \/><\/a><\/p>\n<p>Source\u00a0: <em><a href=\"http:\/\/jasn.asnjournals.org\/content\/early\/2015\/05\/12\/ASN.2014121240\/F1.expansion.html\">ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS<\/a><\/em><\/p>\n<p>Important article de JASN, les mutations dans ce g\u00e8ne, jouant un r\u00f4le dans la respiration mitochondriale, sont associ\u00e9es dans la majorit\u00e9 des cas \u00e0 une atteinte uniquement r\u00e9nale. Il peut exister une atteinte extra-r\u00e9nale essentiellement neurologique (20% des cas). Les autres mitochondropathies s&rsquo;accompagnent de signes extra-r\u00e9naux plus bruyant (neurologiques, ophtalmologiques et cardiologiques).<\/p>\n<p>L&rsquo;int\u00e9r\u00eat de penser \u00e0 rechercher des mutations d&rsquo;<em>ADCK4<\/em> devant toute hyalinose segmentaire et focale (HSF) est la possibilit\u00e9 d&rsquo;une prise en charge th\u00e9rapeutique permettant, probablement, de ralentir la progression de la maladie r\u00e9nale chronique. Comme dans les mitochondropathies associ\u00e9es \u00e0 un d\u00e9faut de production de CoQ10 (<em>COQ2<\/em>, <em>COQ6<\/em>, et <em>PDSS2<\/em>), l&rsquo;apport de CoQ10 permet de contr\u00f4ler les sympt\u00f4mes, ici la prot\u00e9inurie.<\/p>\n<p>En pratique ,devant une HSF commen\u00e7ant \u00e0 l&rsquo;adolescence, cortico-r\u00e9sistante et progressant rapidement vers l&rsquo;insuffisance r\u00e9nale chronique terminale, pensez \u00e0 rechercher une mutation dans <em>ADCK4<\/em>. Il peut y avoir un b\u00e9n\u00e9fice pour votre patient et sa fratrie.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Source\u00a0: ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS Important article de JASN, les mutations dans ce g\u00e8ne, jouant un r\u00f4le dans la respiration mitochondriale, sont associ\u00e9es dans la majorit\u00e9 des cas \u00e0 une atteinte uniquement r\u00e9nale. Il peut exister une atteinte extra-r\u00e9nale &hellip; <a href=\"https:\/\/perruchenautomne.eu\/wordpress\/2015\/05\/13\/penser-a-des-mutations-dadck4-devant-une-glomerulopathie-commencant-a-ladolescence\/\">Continuer la lecture <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[13,14],"tags":[1450,1452,466,194,1451],"class_list":["post-3463","post","type-post","status-publish","format-standard","hentry","category-medecine-2","category-nephrologie","tag-adck4","tag-coq10","tag-glomerulopathie","tag-hsf","tag-mitochondrie"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack_shortlink":"https:\/\/wp.me\/p1l1zM-TR","jetpack_sharing_enabled":true,"jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/posts\/3463","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/comments?post=3463"}],"version-history":[{"count":1,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/posts\/3463\/revisions"}],"predecessor-version":[{"id":3464,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/posts\/3463\/revisions\/3464"}],"wp:attachment":[{"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/media?parent=3463"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/categories?post=3463"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/perruchenautomne.eu\/wordpress\/wp-json\/wp\/v2\/tags?post=3463"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}