{"id":554457,"date":"2026-05-01T12:30:00","date_gmt":"2026-05-01T10:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/?p=554457"},"modified":"2026-04-17T16:14:59","modified_gmt":"2026-04-17T14:14:59","slug":"polykystose-renale-autosomique-recessive-phenotype-atypique","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/fr\/polykystose-renale-autosomique-recessive-phenotype-atypique\/","title":{"rendered":"Polykystose r\u00e9nale autosomique r\u00e9cessive : ph\u00e9notype atypique"},"content":{"rendered":"\n<p><strong>Un gar\u00e7on de 5 ans pr\u00e9sentant une \u00e9chographie r\u00e9nale typique de la polykystose r\u00e9cessive autosomique (ARPKD) pr\u00e9sentait de nombreux kystes h\u00e9patiques de grande taille, ce qui est atypique pour cette maladie. Les analyses g\u00e9n\u00e9tiques ont r\u00e9v\u00e9l\u00e9 des mutations missense h\u00e9t\u00e9rozygotes dans le g\u00e8ne PKHD1. Des mutations dans les g\u00e8nes \u00e0 l&#8217;origine de la polykystose h\u00e9patique ont pu \u00eatre exclues. En r\u00e9sum\u00e9, les analyses g\u00e9n\u00e9tiques compl\u00e8tes sont essentielles pour l&#8217;\u00e9valuation de la polykystose r\u00e9nale au cas par cas.     <\/strong><\/p>\n\n<div class=\"pmpro\"><div class=\"pmpro_card pmpro_content_message\"><div class=\"pmpro_card_content\">Dieser Inhalt ist nur f\u00fcr Benutzer der Gruppe: Medizinische Fachperson zug\u00e4nglich <br \/><a href=\"https:\/\/medizinonline.com\/fr\/mon-compte\/paquets\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/fr\/se-connecter\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Ffr%2Fpolykystose-renale-autosomique-recessive-phenotype-atypique%2F\">Connectez-vous ici<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Un gar\u00e7on de 5 ans pr\u00e9sentant une \u00e9chographie r\u00e9nale typique de la polykystose r\u00e9cessive autosomique (ARPKD) pr\u00e9sentait de nombreux kystes h\u00e9patiques de grande taille, ce qui est atypique pour cette&#8230;&hellip;... <\/p>\n<div class=\"pmpro\"><div class=\"pmpro_card pmpro_content_message\"><div class=\"pmpro_card_content\">Dieser Inhalt ist nur f\u00fcr Benutzer der Gruppe: Medizinische Fachperson zug\u00e4nglich <br \/><a href=\"https:\/\/medizinonline.com\/fr\/mon-compte\/paquets\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/fr\/se-connecter\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Ffr%2Fpolykystose-renale-autosomique-recessive-phenotype-atypique%2F\">Connectez-vous ici<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":554458,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"pmpro_default_level":"","cat_1_feature_home_top":false,"cat_2_editor_pick":false,"csco_eyebrow_text":"\u00c9tude de cas  ","footnotes":""},"category":[11541,11531,11414,11417,11434,11549],"tags":[91320,22715,91324,91323,91322,91321],"powerkit_post_featured":[],"class_list":["post-554457","post","type-post","status-publish","format-standard","has-post-thumbnail","category-cases-fr","category-formation-continue","category-gastro-enterologie-et-hepatologie","category-genetique","category-nephrologie-fr","category-rx-fr","tag-arpkd","tag-etude-de-cas","tag-gene-pkhd1","tag-mutations-missense","tag-phenotype-atypique","tag-polykystose-renale-autosomique-recessive","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-08 20:20:12","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"fr_FR","wpml_translations":{"it_IT":{"locale":"it_IT","id":554434,"slug":"malattia-policistica-autosomica-recessiva-del-rene-fenotipo-atipico","post_title":"Malattia policistica autosomica recessiva del rene: fenotipo atipico","href":"https:\/\/medizinonline.com\/it\/malattia-policistica-autosomica-recessiva-del-rene-fenotipo-atipico\/"},"pt_PT":{"locale":"pt_PT","id":554481,"slug":"doenca-renal-policistica-autossomica-recessiva-fenotipo-atipico","post_title":"Doen\u00e7a renal polic\u00edstica autoss\u00f3mica recessiva: fen\u00f3tipo at\u00edpico","href":"https:\/\/medizinonline.com\/pt-pt\/doenca-renal-policistica-autossomica-recessiva-fenotipo-atipico\/"},"es_ES":{"locale":"es_ES","id":554478,"slug":"poliquistosis-renal-autosomica-recesiva-fenotipo-atipico","post_title":"Poliquistosis renal autos\u00f3mica recesiva: fenotipo at\u00edpico","href":"https:\/\/medizinonline.com\/es\/poliquistosis-renal-autosomica-recesiva-fenotipo-atipico\/"}},"_links":{"self":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts\/554457","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/comments?post=554457"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts\/554457\/revisions"}],"predecessor-version":[{"id":554459,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/posts\/554457\/revisions\/554459"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/media\/554458"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/media?parent=554457"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/category?post=554457"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/tags?post=554457"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/fr\/wp-json\/wp\/v2\/powerkit_post_featured?post=554457"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}