{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T04:14:54Z","timestamp":1754108094589,"version":"3.40.5"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0626_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>PHA1 is a rare heterogeneous disorder featured by changes in renal electrolyte transport due to mineralocorticoid resistance. The aim of the current study is to report the case of a child with 5-year follow-up presenting mutation in the ElaC Ribonuclease Z 2 (ELAC2) gene and clinical-laboratory diagnosis of pseudohypoaldosteronism type 1 (PHA1), as well as atypical clinical manifestations such as thrombocytosis, borderline aldosterone levels, and plasma renin activity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0626_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p> The patient was treated with corticosteroids and salt replenishment. His cardiological condition presented gradual regression and the introduction of new food items in his diet dismissed the need of salt replenishment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0626_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This new molecular mechanism should be taken into consideration in differential diagnoses in children with hyperkalemia, hyponatremia, delayed growth, hypertension and hypertrophic cardiomegaly.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0626","type":"journal-article","created":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T09:42:38Z","timestamp":1660124558000},"page":"1437-1442","source":"Crossref","is-referenced-by-count":2,"title":["Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report"],"prefix":"10.1515","volume":"35","author":[{"given":"Luana Carvalho","family":"Mendes","sequence":"first","affiliation":[{"name":"UESPI-CCS , Teresina , PI , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"de Oliveira Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"UESPI-CCS , Teresina , PI , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo Kelson","family":"Pereira dos Santos","sequence":"additional","affiliation":[{"name":"UESPI-CCS , Teresina , PI , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4389-2902","authenticated-orcid":false,"given":"Rog\u00e9rio Santiago","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"UESPI-CCS , Teresina , PI , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,8,10]]},"reference":[{"key":"2023040100342188775_j_jpem-2021-0626_ref_001","doi-asserted-by":"crossref","unstructured":"Gopal-Kothandapani, JS, Doshi, AB, Smith, K, Christian, M, Mushtaq, T, Banerjee, I, et al.. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab 2019;32:959\u201367. https:\/\/doi.org\/10.1515\/jpem-2018-0538.","DOI":"10.1515\/jpem-2018-0538"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_002","doi-asserted-by":"crossref","unstructured":"Javed, A, Leonard, JM, Cramer, C, Kumar, S, Kirmani, S. Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. J Pediatr Endocrinol Metab 2013;26:393\u20135. https:\/\/doi.org\/10.1515\/jpem-2012-0334.","DOI":"10.1515\/jpem-2012-0334"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_003","doi-asserted-by":"crossref","unstructured":"Casas-Alba, D, Cots, JV, Carretero, LM, Sampol, LM, Zennaro, MC, Jeunemaitre, X, et al.. Pseudohypoaldosteronism types I and II: little more than a name in common. J Pediatr Endocrinol Metab 2017;30:597\u2013601. https:\/\/doi.org\/10.1515\/jpem-2016-0467.","DOI":"10.1515\/jpem-2016-0467"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_004","doi-asserted-by":"crossref","unstructured":"Saoura, M, Powell, CA, Kopajtich, R, Alahmad, A, AL-Balool, HH, Albash, B, et al.. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3\u2032-end processing. Hum Mutat 2019;40:1731\u201348. https:\/\/doi.org\/10.1002\/humu.23777.","DOI":"10.1002\/humu.23777"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_005","doi-asserted-by":"crossref","unstructured":"Amin, N, Alvi, NS, Barth, JH, Field, HP, Finlay, E, Tyerman, K, et al.. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metabol Case Rep 2013;2013:1\u20138. https:\/\/doi.org\/10.1530\/EDM-13-0010.","DOI":"10.1530\/EDM-13-0010"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_006","doi-asserted-by":"crossref","unstructured":"Casartelli, CH, Celiny, P, Garcia, R, Piva, JP, Branco, RG. Adrenal insufficiency in children with septic shock. J Pediatr (Rio J) 2003;79:S169\u201373. https:\/\/doi.org\/10.1590\/S0021-75572003000800006.","DOI":"10.2223\/JPED.1093"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_007","doi-asserted-by":"crossref","unstructured":"Onal, H, Adal, E, Ersen, A, Onal, Z, Keskindemirci, G. Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. Platelets 2012;23:645\u20137. https:\/\/doi.org\/10.3109\/09537104.2011.641624.","DOI":"10.3109\/09537104.2011.641624"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_008","doi-asserted-by":"crossref","unstructured":"Sutor, AH. Thrombocytosis in childhood. Semin Thromb Hemost 1995;21:330\u20139. https:\/\/doi.org\/10.1055\/s-2007-1000654.","DOI":"10.1055\/s-2007-1000654"},{"key":"2023040100342188775_j_jpem-2021-0626_ref_009","doi-asserted-by":"crossref","unstructured":"Riepe, FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72:1\u20139. https:\/\/doi.org\/10.1159\/000224334.","DOI":"10.1159\/000224334"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0626\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0626\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T15:51:12Z","timestamp":1680364272000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0626\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,10]]},"references-count":9,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,9,21]]},"published-print":{"date-parts":[[2022,11,25]]}},"alternative-id":["10.1515\/jpem-2021-0626"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0626","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,8,10]]}}}