{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T04:24:41Z","timestamp":1666671881108},"reference-count":0,"publisher":"Ordem dos Medicos","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Apresenta-se um caso cl\u00ednico de um rapaz de 18 meses com d\u00e9fice de fator H com apresenta\u00e7\u00e3o cl\u00ednica at\u00edpica \u2013 otite m\u00e9dia aguda recorrente e hist\u00f3ria familiar da linhagem materna com doen\u00e7a autoimune (vitiligo, tiroidite e p\u00farpura trombocitop\u00e9nica imune). Analiticamente apresentava C3 e AH50 diminu\u00eddos, assim como properdina e fator H baixos. O fator I era normal. O estudo molecular do gene CFH confirmou o diagn\u00f3stico de d\u00e9fice de fator H. Esta crian\u00e7a n\u00e3o teve nenhuma das manifesta\u00e7\u00f5es t\u00edpicas, nomeadamente doen\u00e7a invasiva por Neisseria meningitidis ou doen\u00e7a renal (glomerulonefrite e s\u00edndrome hemol\u00edtica ur\u00e9mica at\u00edpica). A hist\u00f3ria familiar de autoimunidade e a correta interpreta\u00e7\u00e3o dos achados laboratoriais foram fundamentais para o diagn\u00f3stico.<\/jats:p>","DOI":"10.20344\/amp.10301","type":"journal-article","created":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T18:51:45Z","timestamp":1551379905000},"page":"158-161","source":"Crossref","is-referenced-by-count":0,"title":["D\u00e9fice de Fator H: Um Caso com Apresenta\u00e7\u00e3o At\u00edpica"],"prefix":"10.20344","volume":"32","author":[{"given":"Ana Paula","family":"Rocha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madalena","family":"Borges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concei\u00e7\u00e3o","family":"Neves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o","family":"Farela Neves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8464","published-online":{"date-parts":[[2019,2,28]]},"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/10301\/5622","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/10301\/5622","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T22:39:52Z","timestamp":1666651192000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/10301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,28]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,2,28]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.10301","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"value":"1646-0758","type":"electronic"},{"value":"0870-399X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2,28]]}}}