{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:49:58Z","timestamp":1791856198251,"version":"4.3.4"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Hypertension"],"published-print":{"date-parts":[[1999,9]]},"abstract":"<jats:p>\n            <jats:italic>Abstract<\/jats:italic>\n            \u2014Apparent mineralocorticoid excess is a recessively inherited hypertensive syndrome caused by mutations in the 11\u03b2-hydroxysteroid dehydrogenase type 2 gene, which encodes the enzyme normally responsible for converting cortisol to inactive cortisone. Failure to convert cortisol to cortisone in mineralocorticoid-sensitive tissues permits cortisol to bind to and activate mineralocorticoid receptors, causing hypervolemic hypertension. Typically, these patients have increased ratios of cortisol to cortisone and of 5\u03b1- to 5\u03b2-cortisol metabolites in serum and urine. We have studied 3 patients in 2 families with severe, apparent mineralocorticoid excess and other family members in terms of their genetic, biochemical, and clinical parameters, as well as normal controls. Two brothers were homozygous for an A328V mutation and the third patient was homozygous for an R213C mutation in the 11\u03b2-hydroxysteroid dehydrogenase type 2 gene; both mutations caused a marked reduction in the activity of the encoded enzymes in transfection assays. The steroid profiles of the 7 heterozygotes and 2 other family members studied were completely normal. The results of a novel assay used to distinguish 5\u03b1- and 5\u03b2-tetrahydrometabolites suggest that 5\u03b2-reductase activity is reduced or inhibited in apparent mineralocorticoid excess. In 1 patient undergoing renal dialysis for chronic renal insufficiency, direct control of salt and water balance completely corrected the hypertension, emphasizing the importance of mineralocorticoid action in this syndrome.\n          <\/jats:p>","DOI":"10.1161\/01.hyp.34.3.435","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:53:46Z","timestamp":1339462426000},"page":"435-441","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic, Biochemical, and Clinical Studies of Patients With A328V or R213C Mutations in 11\u03b2HSD2 Causing Apparent Mineralocorticoid Excess"],"prefix":"10.1161","volume":"34","author":[{"given":"Gilles","family":"Morineau","sequence":"first","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Marc","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Boudi","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herve","family":"Galons","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micheline","family":"Gourmelen","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Corvol","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh","family":"Pascoe","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Fiet","sequence":"additional","affiliation":[{"name":"From Biologie Hormonale (G.M., J.F.), Ho\u0302pital Saint-Louis, France; Ne\u0301phrologie, CHG (J.-M.M.), Annonay, France; Chimie Organique, Faculte\u0301 de Pharmacie (A.B., H.G.), Paris, France; Service d\u2019Explorations Fonctionnelles (M.G.), Ho\u0302pital Trousseau, Paris, France; Inserm U36 (P.C.), Colle\u0300ge de France, Paris, France; Fondation Jean Dausset CEPH (L.P.), Paris, France; and Biochimie, Faculte\u0301 de Pharmacie (J.F.), Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-44-5-924"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-49-5-757"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1985.tb00160.x"},{"key":"e_1_3_2_4_2","first-page":"2263","volume":"80","year":"1995","unstructured":"Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab.. 1995;80:2263\u20132266.","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-394"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-128X(94)90084-1"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.19.6056"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-44-4-799"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-63-3-550"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/301955"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(89)90166-0"},{"key":"e_1_3_2_12_2","first-page":"593","volume":"74","year":"1992","unstructured":"Ulick S, Tedde R, Wang JZ. Defective ring A reduction of cortisol as the major metabolic error in the syndrome of apparent mineralocorticoid excess. J Clin Endocrinol Metab.. 1992;74:593\u2013599.","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1350238"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-43-2-265"},{"key":"e_1_3_2_15_2","first-page":"2S","volume":"58","year":"1997","unstructured":"Morineau G, Pascoe L, Krozowski ZS. Mutations R213C et A328V du g\u00e8ne de la 11\u03b2-HSD2 responsables du syndrome d\u2019exc\u00e8s apparent de min\u00e9ralocortico\u00efdes. Ann Endocrinol.. 1997;58:2S-128. Abstract.","journal-title":"Ann Endocrinol."},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.10.4552"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.12.5695"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.8.1397"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-0760(93)90132-G"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.12.2281"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1161\/hyp.25.1.67"},{"key":"e_1_3_2_22_2","first-page":"3381","volume":"80","year":"1995","unstructured":"Obeyesekere VR, Ferrari P, Andrews RK, Wilson RC, New MI, Funder JW, Krozowski ZS. The R337C mutation generates a high Km 11\u03b2-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab.. 1995;80:3381\u20133383.","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1161\/hyp.27.6.1193"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004872-199715120-00005"},{"key":"e_1_3_2_25_2","first-page":"4391","volume":"83","year":"1998","unstructured":"Rogoff D, Smolenicka Z, Bergada I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P. The codon 213 of the 11\u03b2-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab.. 1998;83:4391\u20134393.","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0360237"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(85)90439-X"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1159\/000179490"},{"key":"e_1_3_2_29_2","first-page":"2244","volume":"83","year":"1998","unstructured":"Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab.. 1998;83:2244\u20132254.","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_3_2_30_2","first-page":"1529","volume":"78","year":"1994","unstructured":"Stewart PM, Murry BA, Mason JI. Type 2 11\u03b2-hydroxysteroid dehydrogenase in human fetal tissues. J Clin Endocrinol Metab.. 1994;78:1529\u20131532.","journal-title":"J Clin Endocrinol Metab."}],"container-title":["Hypertension"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/01.HYP.34.3.435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T17:09:42Z","timestamp":1715533782000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/01.HYP.34.3.435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,9]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1999,9]]}},"alternative-id":["10.1161\/01.HYP.34.3.435"],"URL":"https:\/\/doi.org\/10.1161\/01.hyp.34.3.435","relation":{},"ISSN":["0194-911X","1524-4563"],"issn-type":[{"value":"0194-911X","type":"print"},{"value":"1524-4563","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,9]]},"assertion":[{"value":"1999-03-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-05-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-09-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}