{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T14:46:27Z","timestamp":1785854787908,"version":"3.56.0"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pseudohypoaldosteronism type 1 (PHA1) is a rare hereditary disorder characterised by aldosterone resistance leading to salt wasting, hyperkalaemia, and metabolic acidosis. Two forms are recognised: a milder renal form (PHA1A) due to\n                      <jats:italic>NR3C2<\/jats:italic>\n                      mutations and a severe systemic form (PHA1B) caused by biallelic mutations in epithelial sodium channel (\n                      <jats:italic>ENaC<\/jats:italic>\n                      ) subunit genes. Data on Indian patients are scarce. This study describes the clinical, biochemical, and molecular characteristics and treatment outcomes of children with PHA1 from South India.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This multicentric retrospective series included nine children diagnosed with PHA1 across six tertiary care centres between 2022 and 2025. Clinical and biochemical data were extracted from hospital records. Plasma renin, aldosterone, cortisol, and 17\u2010hydroxyprogesterone were measured at presentation. Genetic testing was performed using clinical exome sequencing, and variants were classified according to American College of Medical Genetics and Genomics (ACMG) guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All nine patients had the systemic form (PHA1B). The median age at presentation was 14 days (interquartile range 5.5\u201342.5), and parental consanguinity was present in seven (78%). All presented with hyponatraemia and hyperkalaemia (median serum sodium 124\u2009mEq\/L; potassium 8.0\u2009mEq\/L). Eight (pathogenic\/likely\u2010pathogenic: 4, supporting: 4) homozygous variants were identified in\n                      <jats:italic>SCNN1A<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092),\n                      <jats:italic>SCNN1B<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093), and\n                      <jats:italic>SCNN1G<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093); all were novel. Six patients (67%) died, mainly due to sepsis (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092) or treatment discontinuation (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094), while three remain stable on oral sodium supplementation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This first multicentric South Indian series highlights exclusive reporting of PHA1B, high early mortality, and major treatment challenges. Eight novel\n                      <jats:italic>ENaC<\/jats:italic>\n                      variants expand the genetic spectrum of PHA1B in India.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70196","type":"journal-article","created":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T13:47:29Z","timestamp":1785851249000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Biochemical, and Molecular Spectrum of Pseudohypoaldosteronism Type 1B in Indian Children: A Multicentric Case Series"],"prefix":"10.1111","author":[{"given":"Melkunte Shanthaiah","family":"Dhananjaya","sequence":"first","affiliation":[{"name":"Vydehi Institute of Medical Sciences and Research Centre Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leenatha","family":"Jakkadi","sequence":"additional","affiliation":[{"name":"Rainbow Children's Hospital Hyderabad Andhra Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parvathy","family":"Lalitha","sequence":"additional","affiliation":[{"name":"Aster Medcity Kochi Kerala India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L Prasadh","family":"Rao","sequence":"additional","affiliation":[{"name":"Madras Medical College Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hebbal Nagarajappa","family":"Vani","sequence":"additional","affiliation":[{"name":"Indira Gandhi Institute of Child Health Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avani","family":"Hegde","sequence":"additional","affiliation":[{"name":"Rangadore Memorial Hospital Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajneesh","family":"Reddy","sequence":"additional","affiliation":[{"name":"Vydehi Institute of Medical Sciences and Research Centre Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Reddy","sequence":"additional","affiliation":[{"name":"Vydehi Institute of Medical Sciences and Research Centre Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandhya","family":"Nair","sequence":"additional","affiliation":[{"name":"Medgenome Labs Pvt Ltd Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0243-0448","authenticated-orcid":false,"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Vydehi Institute of Medical Sciences and Research Centre Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02229.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2004.06.003"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-248"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00011.2014"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02255.x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2008.06.013"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000224334"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-13-0010"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm14134408"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/2249-4847.106007"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1607237"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2021-323139"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-013-0070-8"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijn.IJN_258_14"},{"issue":"3","key":"e_1_2_10_16_1","first-page":"268","article-title":"Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report","volume":"33","author":"Joshi K.","year":"2022","journal-title":"EJIFCC"},{"issue":"1","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s13312-023-2815-1","article-title":"Successful Management of Systemic Pseudohypoaldosteronism Type 1 in an Infant","volume":"60","author":"Nanda P. 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