{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,14]],"date-time":"2026-11-14T02:08:52Z","timestamp":1794622132882,"version":"4.9.1"},"reference-count":64,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:p>Pseudo-hipoaldosteronismo tipo 1 (PHA1) \u00e9 uma doen\u00e7a gen\u00e9tica rara, caracterizada por v\u00f4mitos, desidrata\u00e7\u00e3o, baixo ganho p\u00f4ndero-estatural e perda urin\u00e1ria de sal no per\u00edodo neonatal. Indiv\u00edduos afetados apresentam hiponatremia, hipercalemia, aumento da atividade de renina plasm\u00e1tica e concentra\u00e7\u00f5es muito elevadas de aldosterona plasm\u00e1tica, secund\u00e1rias a uma resist\u00eancia renal ou sist\u00eamica \u00e0 aldosterona. A forma sist\u00eamica do PHA1 \u00e9 a mais grave, havendo necessidade de reposi\u00e7\u00e3o de doses altas de NaCl. Os sintomas persistem por toda a vida. Muta\u00e7\u00f5es inativadoras nos genes codificadores das sub-unidades do canal de s\u00f3dio sens\u00edvel \u00e0 amilorida (ENaC) em homozigose ou heterozigose composta s\u00e3o respons\u00e1veis pelo quadro cl\u00ednico de PHA1 sist\u00eamico. A forma renal do PHA1 tem apresenta\u00e7\u00e3o cl\u00ednica mais leve, com necessidade de suplementa\u00e7\u00e3o de doses baixas de NaCl. Os sintomas regridem no final do primeiro ano de vida. Muta\u00e7\u00f5es inativadoras do gene do receptor do mineralocortic\u00f3ide (MR) est\u00e3o associadas \u00e0 forma renal do PHA1 em v\u00e1rias fam\u00edlias afetadas. O padr\u00e3o de heran\u00e7a \u00e9 autoss\u00f4mico dominante, entretanto casos espor\u00e1dicos t\u00eam sido relatados. No presente trabalho, discutimos as a\u00e7\u00f5es e os mecanismos de a\u00e7\u00e3o da aldosterona, e os aspectos cl\u00ednicos e fisiopatol\u00f3gicos envolvidos nas s\u00edndromes de resist\u00eancia aos mineralocortic\u00f3ides. Adicionalmente, os aspectos cl\u00ednicos e moleculares de uma fam\u00edlia brasileira com PHA1 secund\u00e1rio \u00e0 muta\u00e7\u00e3o R947X no gene do MR s\u00e3o discutidos.<\/jats:p>","DOI":"10.1590\/s0004-27302007000300004","type":"journal-article","created":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T22:15:26Z","timestamp":1195164926000},"page":"373-381","source":"Crossref","is-referenced-by-count":4,"title":["Resist\u00eancia aos mineralocortic\u00f3ides: pseudo-hipoaldosteronismo tipo 1"],"prefix":"10.1590","volume":"51","author":[{"given":"F\u00e1bio L.","family":"Fernandes-Rosa","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonir R.R.","family":"Antonini","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o 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