{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:43:38Z","timestamp":1792176218126,"version":"4.4.0"},"reference-count":18,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"1","content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>El t\u00e9rmino \u2018porfiria\u2019 proviene del griego \u2018porphyra\u2019 y alude a un grupo heterog\u00e9neo de trastornos metab\u00f3licos causados por una deficiencia enzim\u00e1tica en la bios\u00edntesis del grupo hemo. La causa de la porfiria intermitente aguda es la deficiencia de la enzima deaminasa del porfobilin\u00f3geno.Se presenta el caso de una mujer de 40 a\u00f1os que present\u00f3 dolor abdominal de 10 d\u00edas de evoluci\u00f3n, trastorno hidroelectrol\u00edtico grave debido a hiponatremia e hipopotasemia, taquicardia e hipertensi\u00f3n arterial sist\u00e9mica persistentes, por lo cual fue sometida a una laparotom\u00eda en la que no se encontr\u00f3 ninguna afecci\u00f3n de origen quir\u00fargico, A los siete d\u00edas del examen inicial, la paciente desarroll\u00f3 cuadriparesia fl\u00e1cida aguda y present\u00f3 una crisis convulsiva t\u00f3nico-cl\u00f3nica generalizada. Los estudios neurofisiol\u00f3gicos evidenciaron una polineuropat\u00eda axonal mixta, y los valores de porfobilin\u00f3geno y porfirinas en orina eran elevados. Tras diagnosticarse porfiria intermitente aguda, esta se trat\u00f3 con hemina, lo que estabiliz\u00f3 los signos cl\u00ednicos y normaliz\u00f3 el porfobilin\u00f3geno.La prevalencia de esta enfermedad es de 1 en 2.000 personas. Tiene un patr\u00f3n de herencia autos\u00f3mico dominante y se manifiesta principalmente en mujeres con edades entre los 20 y los 40 a\u00f1os. La enfermedad cursa con s\u00edntomas neurol\u00f3gicos y viscerales, y se trata con la administraci\u00f3n de hemina y dextrosa, evitando las soluciones hipot\u00f3nicas por el riesgo de exacerbar la hiponatremia.<\/jats:p>","DOI":"10.7705\/biomedica.4767","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T15:56:37Z","timestamp":1584633397000},"page":"14-19","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":13,"title":["Porfiria intermitente aguda: reporte de caso"],"prefix":"10.7705","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3863-5522","authenticated-orcid":false,"given":"Jos\u00e9","family":"Bustos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6001-5720","authenticated-orcid":false,"given":"Ledmar","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3689-1672","authenticated-orcid":false,"given":"Ricardo","family":"Quintero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2020,3,1]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Woolf J, Marsden J, Degg T, Whatley S, Reed P, Brazil N, et al. 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