{"id":554481,"date":"2026-05-01T12:30:00","date_gmt":"2026-05-01T10:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/?p=554481"},"modified":"2026-04-17T16:15:25","modified_gmt":"2026-04-17T14:15:25","slug":"doenca-renal-policistica-autossomica-recessiva-fenotipo-atipico","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/pt-pt\/doenca-renal-policistica-autossomica-recessiva-fenotipo-atipico\/","title":{"rendered":"Doen\u00e7a renal polic\u00edstica autoss\u00f3mica recessiva: fen\u00f3tipo at\u00edpico"},"content":{"rendered":"\n<p><strong>Num rapaz de 5 anos de idade com achados ecogr\u00e1ficos renais t\u00edpicos de doen\u00e7a renal polic\u00edstica autoss\u00f3mica recessiva (ARPKD), foram encontrados numerosos quistos hep\u00e1ticos de grandes dimens\u00f5es &#8211; at\u00edpicos para esta doen\u00e7a. As an\u00e1lises gen\u00e9ticas revelaram muta\u00e7\u00f5es missense heterozig\u00f3ticas no gene PKHD1. Foi poss\u00edvel excluir muta\u00e7\u00f5es nos genes subjacentes \u00e0 doen\u00e7a polic\u00edstica do f\u00edgado. Em resumo, as an\u00e1lises gen\u00e9ticas exaustivas s\u00e3o cruciais para o esclarecimento de casos relacionados com a doen\u00e7a renal poliqu\u00edstica.     <\/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\/pt-pt\/a-minha-conta\/pacotes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/pt-pt\/iniciar-sessao\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fpt-pt%2Fdoenca-renal-policistica-autossomica-recessiva-fenotipo-atipico%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Num rapaz de 5 anos de idade com achados ecogr\u00e1ficos renais t\u00edpicos de doen\u00e7a renal polic\u00edstica autoss\u00f3mica recessiva (ARPKD), foram encontrados numerosos quistos hep\u00e1ticos de grandes dimens\u00f5es &#8211; at\u00edpicos para&#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\/pt-pt\/a-minha-conta\/pacotes\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/pt-pt\/iniciar-sessao\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fpt-pt%2Fdoenca-renal-policistica-autossomica-recessiva-fenotipo-atipico%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":554482,"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":"Estudo de caso  ","footnotes":""},"category":[11536,11524,11407,11411,11426,11551],"tags":[91346,91347,22729,91348,91350,91349],"powerkit_post_featured":[],"class_list":["post-554481","post","type-post","status-publish","format-standard","has-post-thumbnail","category-casos-pt-pt","category-formacao-continua","category-gastroenterologia-e-hepatologia","category-genetica-pt-pt","category-nefrologia-pt-pt","category-rx-pt","tag-arpkd","tag-doenca-renal-policistica-autossomica-recessiva","tag-estudo-de-caso","tag-fenotipo-atipico","tag-gene-pkhd1","tag-mutacoes-missense","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-11 17:56:27","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"pt_PT","wpml_translations":{"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\/pt-pt\/wp-json\/wp\/v2\/posts\/554481","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/comments?post=554481"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts\/554481\/revisions"}],"predecessor-version":[{"id":554483,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/posts\/554481\/revisions\/554483"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/media\/554482"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/media?parent=554481"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/category?post=554481"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/tags?post=554481"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/pt-pt\/wp-json\/wp\/v2\/powerkit_post_featured?post=554481"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}