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The patient was found to have a mutation in the gene encoding the beta subunit of sodium channel epithelial 1, which is a component of the epithelial sodium channel. The difficulty in managing the patient was not only due to a complex diagnostic work-up but also to recurrent electrolyte imbalances.<\/jats:p>","DOI":"10.1136\/bcr-2025-265335","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T05:45:19Z","timestamp":1747806319000},"page":"e265335","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Autosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management"],"prefix":"10.1136","volume":"18","author":[{"given":"Reem","family":"Alshaikh","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Western University, London, Ontario, Canada"},{"name":"King Abdullah bin Abdulaziz University Hospital, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelica","family":"Moresco","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Western University, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9461-3392","authenticated-orcid":false,"given":"Mashael Mahmoud","family":"Abujabal","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Western University, London, Ontario, Canada"},{"name":"Department of Paediatrics, East Jeddah General Hospital, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dervla","family":"Connaughton","sequence":"additional","affiliation":[{"name":"The Lilibeth Caberto Kidney Clinical Research Unit, Western University, London, Ontario, Canada"},{"name":"Department of Medicine, Western University, London, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1891-6765","authenticated-orcid":false,"given":"Guido","family":"Filler","sequence":"additional","affiliation":[{"name":"The Lilibeth Caberto Kidney Clinical Research Unit, 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