{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T01:38:58Z","timestamp":1785893938609,"version":"3.56.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,5]]},"abstract":"\nIntroduction<\/jats:title>\nAutosomal recessive forms of pseudohypoaldosteronism are caused by genetic defects in the epithelial sodium channel. Little is known about the long-term outcome and medication needs during childhood and adolescence.<\/jats:p>\n<\/jats:sec>\n\nObjective<\/jats:title>\nThis study reports a single-centre experience of children affected with this ultra-rare condition over a 37-year period.<\/jats:p>\n<\/jats:sec>\n\nMethods<\/jats:title>\nWe report the clinical presentation, growth, neuro-development, associated conditions, mortality and medication dosing and administration for 12 affected children from eight families.<\/jats:p>\n<\/jats:sec>\n\nResults<\/jats:title>\nAll children were presented within the first 2 weeks of life with life-threatening, severe hyperkalaemia and hyponatraemia. All parents were consanguineous and of South Asian, Middle Eastern or African ethnic origin. Eight children had homozygous mutations in the SCNN1A and SCNN1G<\/jats:italic> genes, encoding the epithelial sodium channel subunits alpha and gamma, respectively, including one novel mutation. Three children died (25%) and two (16%) had severe neurological impairment post-cardiac arrest secondary to hyperkalaemia. One affected female had a successful pregnancy at the age of 28 years.<\/jats:p>\n<\/jats:sec>\n\nConclusion<\/jats:title>\nDespite high mortality and morbidity in this condition, survival with normal physical and neurological outcome is possible, justifying intensive management to prevent electrolyte imbalance.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-20-0152","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T17:53:48Z","timestamp":1615398828000},"page":"K15-K20","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":10,"title":["Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism"],"prefix":"10.1093","volume":"184","author":[{"given":"Meena","family":"Bandhakavi","sequence":"first","affiliation":[{"name":"1Department of Paediatrics, Sandwell and West Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Wanaguru","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loveline","family":"Ayuk","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy M","family":"Kirk","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"},{"name":"3Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy G","family":"Barrett","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"},{"name":"4Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Kershaw","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"},{"name":"3Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK"},{"name":"5Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J","family":"Shaw","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology and Diabetes, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust Birmingham, Birmingham, UK"},{"name":"3Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/184\/5\/EJE-20-0152.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/184\/5\/EJE-20-0152.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:14:40Z","timestamp":1676391280000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/184\/5\/K15\/6653979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-0152","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}