{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T06:24:46Z","timestamp":1791095086107,"version":"4.1.0"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Hypertension"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>CYP11B1\/CYP11B2<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1161\/hypertensionaha.111.175083","type":"journal-article","created":{"date-parts":[[2011,8,29]],"date-time":"2011-08-29T22:06:11Z","timestamp":1314655571000},"page":"797-803","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":143,"title":["Prevalence and Characteristics of Familial Hyperaldosteronism"],"prefix":"10.1161","volume":"58","author":[{"given":"Paolo","family":"Mulatero","sequence":"first","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Tizzani","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Viola","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Bertello","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Monticone","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Mengozzi","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenica","family":"Schiavone","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy Ann","family":"Williams","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Einaudi","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"La Grotta","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Rabbia","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Veglio","sequence":"additional","affiliation":[{"name":"From the Department of Medicine and Experimental Oncology, Division of Internal Medicine and Hypertension (P.M., D.T., A.V., C.B., S.M., D.S., T.A.W., F.R., F.V.), and Department of Endocrinology and Diabetology, Regina Margherita Pediatric Hospital (S.E.), University of Torino, Torino, Italy; Clinical Chemistry Laboratory (G.M.), San Giovanni Battista University Hospital, Torino, Italy; Division of Internal Medicine (A.L.G.), Service of Endocrinology and Hypertension, Cardinal Massaia Hospital,..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0104"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-011-9156-6"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.01.015"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2116"},{"key":"e_1_3_3_6_2","first-page":"1109","article-title":"Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone","volume":"95","author":"Sutherland DJ","year":"1966","unstructured":"Sutherland DJ, Ruse JL, Laidlaw JC. 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