[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-detail-31786":3,"doc-seo-31786":27},{"code":4,"msg":5,"data":6},0,"success",{"doc_id":7,"user_id":8,"nickname":9,"user_avatar":10,"doc_module":4,"category_id":11,"category_name":12,"doc_title":13,"doc_description":14,"file_id":15,"file_url":16,"file_type":17,"file_size":18,"view_count":4,"is_deleted":4,"is_public":19,"is_downloadable":19,"audit_status":19,"page_count":20,"language":21,"language_code":22,"table_of_contents":23,"faqs":24,"seo_title":13,"seo_description":14,"update_tm":25,"read_time":26},31786,1374391974468,"Eden","https://ap-avatar.wpscdn.com/davatar_29158cc5080c5b710cf443261637dec0",7,"Healthcare","Wilson Disease Primer","Wilson disease (WD) is an inherited copper metabolism disorder driven by homozygous or compound heterozygous ATP7B mutations. ATP7B dysfunction disrupts biliary copper excretion and ceruloplasmin maturation, causing hepatocellular copper overload and release of toxic non-ceruloplasmin-bound copper into circulation, with secondary accumulation in tissues including the brain. WD presents variably from childhood to adulthood, ranges in prevalence by region and consanguinity, and remains fatal without timely diagnosis and treatment. The primer reviews epidemiology, genetics, pathogenesis, clinical features, diagnosis, and management options, including future therapies.","cbCain3qr27HqRaU","https://ap.wps.com/l/cbCain3qr27HqRaU","pdf",4406782,1,20,"English","en","# Introduction\n# Epidemiology\n# Mechanisms/Pathophysiology\n# Genetics","[{\"question\":\"What causes Wilson disease at the genetic level?\",\"answer\":\"Wilson disease is caused by ATP7B mutations present as homozygous or compound heterozygous alleles. ATP7B encodes a copper-transporting ATPase critical for copper handling in the liver.\"},{\"question\":\"How does ATP7B dysfunction lead to symptoms?\",\"answer\":\"Failed ATP7B-mediated biliary excretion causes copper overload in hepatocytes. Excess toxic, non-ceruloplasmin-bound copper circulates and accumulates in other tissues, particularly the brain, leading to neurological and psychiatric manifestations.\"},{\"question\":\"Why can Wilson disease be underdiagnosed?\",\"answer\":\"Variable clinical presentation can lead to underdiagnosis and misdiagnosis. Additional factors include limited sensitivity of certain copper metabolism tests and incomplete knowledge about age-related penetrance of ATP7B mutations.\"}]",1780088601,50,{"code":4,"msg":28,"data":29},"ok",{"site_id":30,"language":22,"slug":31,"title":13,"keywords":32,"description":14,"schema_data":33,"social_meta":84,"head_meta":86,"extra_data":88,"updated_unix":25},105,"wilson-disease-primer","",{"@graph":34,"@context":83},[35,52,66],{"@type":36,"itemListElement":37},"BreadcrumbList",[38,42,46,49],{"item":39,"name":40,"@type":41,"position":19},"https://docshare.wps.com","Home","ListItem",{"item":43,"name":44,"@type":41,"position":45},"https://docshare.wps.com/document/","Document",2,{"item":47,"name":12,"@type":41,"position":48},"https://docshare.wps.com/document/healthcare/",3,{"item":50,"name":13,"@type":41,"position":51},"https://docshare.wps.com/document/wilson-disease-primer/31786/",4,{"url":50,"name":13,"@type":53,"author":54,"headline":13,"publisher":56,"fileFormat":59,"description":14,"dateModified":60,"datePublished":60,"encodingFormat":59,"isAccessibleForFree":61,"interactionStatistic":62},"DigitalDocument",{"name":9,"@type":55},"Person",{"url":39,"name":57,"@type":58},"DocShare","Organization","application/pdf","2026-05-29",true,{"@type":63,"interactionType":64,"userInteractionCount":4},"InteractionCounter",{"@type":65},"ViewAction",{"@type":67,"mainEntity":68},"FAQPage",[69,75,79],{"name":70,"@type":71,"acceptedAnswer":72},"What causes Wilson disease at the genetic level?","Question",{"text":73,"@type":74},"Wilson disease is caused by ATP7B mutations present as homozygous or compound heterozygous alleles. ATP7B encodes a copper-transporting ATPase critical for copper handling in the liver.","Answer",{"name":76,"@type":71,"acceptedAnswer":77},"How does ATP7B dysfunction lead to symptoms?",{"text":78,"@type":74},"Failed ATP7B-mediated biliary excretion causes copper overload in hepatocytes. Excess toxic, non-ceruloplasmin-bound copper circulates and accumulates in other tissues, particularly the brain, leading to neurological and psychiatric manifestations.",{"name":80,"@type":71,"acceptedAnswer":81},"Why can Wilson disease be underdiagnosed?",{"text":82,"@type":74},"Variable clinical presentation can lead to underdiagnosis and misdiagnosis. Additional factors include limited sensitivity of certain copper metabolism tests and incomplete knowledge about age-related penetrance of ATP7B mutations.","https://schema.org",{"og:url":50,"og:type":85,"og:title":13,"og:site_name":57,"og:description":14},"article",{"robots":87,"canonical":50},"index,follow",{"doc_id":7,"site_id":30}]