{"entities":{"Q40115":{"pageid":30483,"ns":120,"title":"Item:Q40115","lastrevid":126746,"modified":"2026-08-13T05:47:59Z","type":"item","id":"Q40115","labels":{"mul":{"language":"mul","value":"5C58.00"},"pt-br":{"language":"pt-br","value":"S\u00edndrome da Crigler-Najjar"},"en":{"language":"en","value":"Crigler-Najjar syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Crigler-Najjar \u00e9 um dist\u00farbio autoss\u00f4mico recessivo do metabolismo da bilirrubina, caracterizado por hiperbilirrubinemia n\u00e3o conjugada(bilirrubina indireta) devido a um d\u00e9ficit hep\u00e1tico da atividade da bilirrubina glucuronosiltransferase. Dois tipos foram descritos, SCN tipos 1 e 2, dependendo se o d\u00e9ficit enzim\u00e1tico \u00e9 completo ou parcial: as manifesta\u00e7\u00f5es cl\u00ednicas variam de acordo. Os pacientes apresentam icter\u00edcia isolada que aparece no in\u00edcio da vida. As an\u00e1lises biol\u00f3gicas detectam hiperbilirrubinemia n\u00e3o conjugada grave com testes de fun\u00e7\u00e3o hep\u00e1tica normais. Os estudos de imagem abdominal (radiografias simples, tomografias computadorizadas ou ultrassonografias) e os achados da histologia hep\u00e1tica s\u00e3o normais. O diagn\u00f3stico geralmente \u00e9 confirmado por an\u00e1lise de DNA gen\u00f4mico."},"en":{"language":"en","value":"Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"303434e96150f72a534fe0be8c1515329e26a2f4","datavalue":{"value":"https://id.who.int/icd/entity/291439191","type":"string"},"datatype":"url"},"type":"statement","id":"Q40115$AD2D98C7-A930-45CD-B686-0E99FD68F524","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"755de31c6fa124bb6e082776b311d77dac0b6fa2","datavalue":{"value":"CID11:5C58.00","type":"string"},"datatype":"string"},"type":"statement","id":"Q40115$724C9070-100C-4C1F-A7B0-16BD441B942E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"2fc012d130a68732fe09b6319ac56832036283ec","datavalue":{"value":"dki-india-5C58.00","type":"string"},"datatype":"string"},"type":"statement","id":"Q40115$83E05305-AAFD-4753-BA26-87E5653CAB9E","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40115$957364D6-3B70-4F03-ACAE-1BAB486C765B","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q40115$A6531E4A-606B-48E3-BB86-45741E7708CF","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q40115$5258F3BF-D8B1-4571-8478-3B4C69BDF6BB","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"a15583aec0d66fae383ed4f0bcc0e8ee33678901","datavalue":{"value":{"entity-type":"item","numeric-id":15695,"id":"Q15695"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40115$0B24F5AC-A33B-4142-9660-A3B20D9B29A5","rank":"normal"}]},"sitelinks":{}}}}