{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T09:18:18Z","timestamp":1793351898944,"version":"4.5.0"},"reference-count":3,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,5,26]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.<\/jats:p>","DOI":"10.1136\/bcr-2024-260221","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T22:45:16Z","timestamp":1719269116000},"page":"e260221","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["An unusual case of Pseudohypoaldosteronism coexisting with cystic fibrosis"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3538-0862","authenticated-orcid":false,"given":"Navin","family":"Umapathy","sequence":"first","affiliation":[{"name":"Paediatrics, Saveetha Medical College and Hospital, SIMATS Deemed University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balakrishnan","family":"Thirugnana Sambanda Moorthy","sequence":"additional","affiliation":[{"name":"Paediatrics, Saveetha Medical College and Hospital, SIMATS University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2348-770X","authenticated-orcid":false,"given":"Vaanmathi","family":"Azhagar Nambi Santhi","sequence":"additional","affiliation":[{"name":"Paediatrics, Saveetha Medical College and Hospital, SIMATS Deemed University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lal D V","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Saveetha Medical College and Hospital, SIMATS University, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,6,24]]},"reference":[{"key":"2025082712253507000_17.6.e260221.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70071-0"},{"key":"2025082712253507000_17.6.e260221.2","article-title":"Pseudohypoaldosteronism type 1: clinical features and management in infancy","volume":"2013","author":"Amin","year":"2013","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"2025082712253507000_17.6.e260221.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1697-5"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-260221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:25:41Z","timestamp":1756322741000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-260221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":3,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6,24]]},"published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1136\/bcr-2024-260221"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-260221","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6]]}}}