{"id":554460,"date":"2026-05-01T12:30:00","date_gmt":"2026-05-01T10:30:00","guid":{"rendered":"https:\/\/medizinonline.com\/?p=554460"},"modified":"2026-04-17T16:14:59","modified_gmt":"2026-04-17T14:14:59","slug":"autosomal-recessive-polycystic-kidney-disease-atypical-phenotype","status":"publish","type":"post","link":"https:\/\/medizinonline.com\/en\/autosomal-recessive-polycystic-kidney-disease-atypical-phenotype\/","title":{"rendered":"Autosomal recessive polycystic kidney disease: atypical phenotype"},"content":{"rendered":"\n<p><strong>In a 5-year-old boy with renal ultrasound findings typical of autosomal recessive polycystic kidney disease (ARPKD), numerous large liver cysts were found &#8211; atypical for this disease. Genetic analyses revealed heterozygous missense mutations in the PKHD1 gene. Mutations in genes underlying polycystic liver disease could be excluded. In summary, comprehensive genetic analyses are crucial for the case-related clarification of polycystic kidney disease.     <\/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\/en\/my-account\/packages\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/en\/log-in\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fen%2Fautosomal-recessive-polycystic-kidney-disease-atypical-phenotype%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>In a 5-year-old boy with renal ultrasound findings typical of autosomal recessive polycystic kidney disease (ARPKD), numerous large liver cysts were found &#8211; atypical for this disease. Genetic analyses revealed&#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\/en\/my-account\/packages\/\">Jetzt beitreten<\/a><\/div><div class=\"pmpro_card_actions pmpro_font-medium\">Already a member? <a href=\"https:\/\/medizinonline.com\/en\/log-in\/?redirect_to=https%3A%2F%2Fmedizinonline.com%2Fen%2Fautosomal-recessive-polycystic-kidney-disease-atypical-phenotype%2F\">Log in here<\/a><\/div><\/div><\/div>","protected":false},"author":7,"featured_media":554461,"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":"Case study  ","footnotes":""},"category":[11520,11508,11391,11396,11413,11548],"tags":[91325,91327,91326,22745,91328,91329],"powerkit_post_featured":[],"class_list":["post-554460","post","type-post","status-publish","format-standard","has-post-thumbnail","category-cases-en","category-education","category-gastroenterology-and-hepatology","category-genetics","category-nephrology","category-rx-en","tag-arpkd","tag-atypical-phenotype","tag-autosomal-recessive-polycystic-kidney-disease","tag-case-study","tag-missense-mutations","tag-pkhd1-gene","pmpro-level-required","pmpro-level-1","pmpro-no-access"],"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-09 04:21:04","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"wpml_current_locale":"en_US","wpml_translations":{"fr_FR":{"locale":"fr_FR","id":554457,"slug":"polykystose-renale-autosomique-recessive-phenotype-atypique","post_title":"Polykystose r\u00e9nale autosomique r\u00e9cessive : ph\u00e9notype atypique","href":"https:\/\/medizinonline.com\/fr\/polykystose-renale-autosomique-recessive-phenotype-atypique\/"},"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\/en\/wp-json\/wp\/v2\/posts\/554460","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/comments?post=554460"}],"version-history":[{"count":1,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts\/554460\/revisions"}],"predecessor-version":[{"id":554462,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/posts\/554460\/revisions\/554462"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/media\/554461"}],"wp:attachment":[{"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/media?parent=554460"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/category?post=554460"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/tags?post=554460"},{"taxonomy":"powerkit_post_featured","embeddable":true,"href":"https:\/\/medizinonline.com\/en\/wp-json\/wp\/v2\/powerkit_post_featured?post=554460"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}