{"entities":{"Q40109":{"pageid":30477,"ns":120,"title":"Item:Q40109","lastrevid":126687,"modified":"2026-08-13T05:47:28Z","type":"item","id":"Q40109","labels":{"mul":{"language":"mul","value":"5C58.1"},"pt-br":{"language":"pt-br","value":"Porfirias"},"en":{"language":"en","value":"Porphyrias"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As porfirias constituem um grupo de doen\u00e7as caracterizadas por manifesta\u00e7\u00f5es neuro-viscerais intermitentes, les\u00f5es cut\u00e2neas ou pela combina\u00e7\u00e3o de ambas. Todas as porfirias s\u00e3o causadas por uma defici\u00eancia em uma das enzimas da via de bioss\u00edntese do heme, resultando em um ac\u00famulo de porfirinas e/ou seus precursores no f\u00edgado ou na medula \u00f3ssea. Os sinais cl\u00ednicos da doen\u00e7a geralmente aparecem na idade adulta, mas algumas porfirias afetam as crian\u00e7as. As porfirias podem ser classificadas de acordo com a localiza\u00e7\u00e3o principal da anomalia metab\u00f3lica. A neurotoxicidade direta ou indireta pode causar manifesta\u00e7\u00f5es neurol\u00f3gicas. A transmiss\u00e3o das porfirias heredit\u00e1rias \u00e9 autoss\u00f4mica e dominante com penetr\u00e2ncia fraca ou recessiva com penetr\u00e2ncia completa. O diagn\u00f3stico \u00e9 baseado principalmente na dosagem de porfirinas e seus precursores em amostras biol\u00f3gicas."},"en":{"language":"en","value":"Porphyrias constitute a group of diseases characterised by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"04d34ab46559d27f8ce7666a5f7848ae7c1f944f","datavalue":{"value":"https://id.who.int/icd/entity/98434199","type":"string"},"datatype":"url"},"type":"statement","id":"Q40109$6E0D7854-55B0-4DFC-B2D2-A631D88CEDE6","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b9deac1b990c2fa5ece7e4c9c5bf7e21c2a9f6df","datavalue":{"value":"CID11:5C58.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40109$91B090E5-1D47-4E27-9D44-5F67AE825B43","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"3810ee97e80000ac08c704fc1f48fdc196472458","datavalue":{"value":"dki-india-5C58.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40109$54DEC75E-D8B7-4252-AC4F-A8A84C58E429","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40109$71EE18EC-B339-4DB6-BAD1-17185096D86D","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":"Q40109$650FC298-402A-41A9-AA1C-5DBD7C051E81","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":"Q40109$1A3C45D7-AFC8-4E72-AA33-C3D4E3541D45","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"989f224705d946dd0e0989853c8bce973e2844c4","datavalue":{"value":{"entity-type":"item","numeric-id":15683,"id":"Q15683"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40109$4588E12E-90AD-457C-B1EE-73BD43956DF2","rank":"normal"}]},"sitelinks":{}}}}