• Medientyp: E-Artikel
  • Titel: Prevalence and Characteristics of Familial Hyperaldosteronism : The PATOGEN Study (Primary Aldosteronism in TOrino-GENetic forms) : The PATOGEN Study (Primary Aldosteronism in TOrino-GENetic forms)
  • Beteiligte: Mulatero, Paolo; Tizzani, Davide; Viola, Andrea; Bertello, Chiara; Monticone, Silvia; Mengozzi, Giulio; Schiavone, Domenica; Williams, Tracy Ann; Einaudi, Silvia; La Grotta, Antonio; Rabbia, Franco; Veglio, Franco
  • Erschienen: Ovid Technologies (Wolters Kluwer Health), 2011
  • Erschienen in: Hypertension
  • Sprache: Englisch
  • DOI: 10.1161/hypertensionaha.111.175083
  • ISSN: 0194-911X; 1524-4563
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  • Beschreibung: <jats:p> Primary aldosteronism (PA) is the most frequent cause of secondary hypertension, and patients display an increased prevalence of cardiovascular events compared with essential hypertensives. To date, 3 familial forms of PA have been described and termed familial hyperaldosteronism types I, II, and III (FH-I to -III). The aim of this study was to investigate the prevalence and clinical characteristics of the 3 forms of FH in a large population of PA patients. Three-hundred consecutive PA patients diagnosed in our unit were tested by long-PCR of the <jats:italic>CYP11B1/CYP11B2</jats:italic> hybrid gene that causes FH-I, and all of the available relatives of PA patients were screened to confirm or exclude PA and, thus, FH-II. Urinary 18-hydroxycortisol and 18-oxocortisol were measured in all of the familial PA patients. Two patients were diagnosed with FH-I (prevalence: 0.66%), as well as 21 of their relatives, and clinical phenotypes of the 2 affected families varied markedly. After exclusion of families who refused testing and those who were not informative, 199 families were investigated, of which 12 were diagnosed with FH-II (6%) and an additional 15 individuals had confirmed PA; clinical and biochemical phenotypes of FH-II families were not significantly different from sporadic PA patients. None of the families displayed a phenotype compatible with FH-III diagnosis. Our study demonstrates that familial forms of hyperaldosteronism are more frequent than previously expected and reinforces the recommendation of the Endocrine Society Guidelines to screen all first-degree hypertensive relatives of PA patients. </jats:p>
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