{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:13:34Z","timestamp":1780503214197,"version":"3.54.1"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2002,9,1]],"date-time":"2002-09-01T00:00:00Z","timestamp":1030838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Systemic pseudohypoaldosteronism type I (PHAI) is an autosomal recessive disorder that arises from loss of function mutations of the \u03b1, \u03b2, or \u03b3 subunit of Epithelial Na+ Channel (ENaC). In addition to a severe renal phenotype in the neonatal period, patients with PHAI develop a childhood pulmonary syndrome characterized by cough and frequent respiratory infections. We tested a patient, born to consanguineous parents, who presented with dehydration, metabolic acidosis, hyperkalemia, elevated renin and aldosterone levels at birth, and recurrent respiratory symptoms in his first year. He demonstrated defective epithelial Na+ transport in multiple organs (raised sweat Cl\u2212, 120 mM; raised salivary Na+ and Cl\u2212, 118 and 111 mM, respectively; and little nasal amiloride-sensitive potential difference). No deleterious mutation was identified in the coding region of the three ENaC subunits. Reverse transcriptase-polymerase chain reaction of nasal epithelial RNA showed reduced \u03b2ENaC expression, and inability to amplify promoter elements indicated the possibility of a deletion in the 5\u2032 region. Using a probe that corresponded to exon 1A of \u03b2ENaC, we confirmed a large deletion (&amp;gt; 1,300 bp). In summary, a homozygous mutation in the promoter region of \u03b2ENaC leads to PHAI, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype.<\/jats:p>","DOI":"10.1165\/rcmb.2002-0029oc","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T21:09:09Z","timestamp":1365023349000},"page":"314-319","source":"Crossref","is-referenced-by-count":28,"title":["Systemic Pseudohypoaldosteronism from Deletion of the Promoter Region of the Human\n                    <b>\u03b2<\/b>\n                    Epithelial Na+ Channel Subunit"],"prefix":"10.1093","volume":"27","author":[{"given":"Christie P.","family":"Thomas","sequence":"first","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang Z.","family":"Liu","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verity E.","family":"Mick","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eithne","family":"MacLaughlin","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Knowles","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine, University of Iowa, Iowa City, Iowa; University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Department of Pediatrics, Children's Hospital and University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2002,9,1]]},"reference":[{"key":"2026030623560279700_BIB1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/j.1651-2227.1978.tb16314.x","volume":"67","year":"1978","journal-title":"Acta Paediatr. 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