{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:52:45Z","timestamp":1790815965046,"version":"4.1.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in &lt;i&gt;KCNJ5&lt;\/i&gt; have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes (G151R, T158A, I157S, and Y152C), (1) FH-III patients with G151E have shown milder phenotype, and (2) G151E-harboring cells were found to have rapid lethality due to much larger sodium conductance of the encoded channel (Kir3.4), which prevents adrenal hypertrophy. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Here we describe the clinical course of a sporadic case of FH-III, with de novo G151R mutation. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The patient developed polyuria at around 1.5 years of age and developed hypertension and hypokalemia by 4 years of age. Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 years with no discernible adrenal enlargement. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Diverse clinical severity in FH-III cannot be defined solely by &lt;i&gt;KCNJ5&lt;\/i&gt; genotype.<\/jats:p>","DOI":"10.1159\/000358197","type":"journal-article","created":{"date-parts":[[2014,5,14]],"date-time":"2014-05-14T06:42:50Z","timestamp":1400049770000},"page":"138-142","source":"Crossref","is-referenced-by-count":38,"title":["Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature"],"prefix":"10.1159","volume":"82","author":[{"given":"Masanori","family":"Adachi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Asakura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Sugiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Homma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,5,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2012.230"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1246187"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1161\/RES.0b013e318224a359"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/355262a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.17.8327"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0b013e3283028352"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-55-5-1013"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0594"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1126\/science.1198785"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121407109"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.111.183996"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1334"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2428"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.1997.tb00999.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2550"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1243601"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/358197","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/358197","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:35:24Z","timestamp":1745433324000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000358197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,8,1]]},"published-print":{"date-parts":[[2014,8,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000358197","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5126134","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}