{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T08:20:28Z","timestamp":1787818828313,"version":"build-2784847793"},"reference-count":79,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:00:00Z","timestamp":1787788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["305906\/2024-0"],"award-info":[{"award-number":["305906\/2024-0"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["300024\/2025-8"],"award-info":[{"award-number":["300024\/2025-8"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"award":["305906\/2024-0"],"award-info":[{"award-number":["305906\/2024-0"]}],"id":[{"id":"https:\/\/ror.org\/03swz6y49","id-type":"ROR","asserted-by":"publisher"}]},{"award":["300024\/2025-8"],"award-info":[{"award-number":["300024\/2025-8"]}],"id":[{"id":"https:\/\/ror.org\/03swz6y49","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Cystic fibrosis is a genetic disorder caused by pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and may be complicated by hypokalemic hypochloremic metabolic alkalosis (HHMA), resulting from excessive electrolyte loss through sweat. This retrospective study aimed to clinically characterize individuals with cystic fibrosis who developed HHMA, characterize their CFTR genetic profile and compare it with that of other individuals with cystic fibrosis followed at a Brazilian tertiary referral center, and contextualize these findings within the available national and international literature. Among 257 individuals with cystic fibrosis followed at a tertiary referral center between 2014 and 2024, 41 (15.9%) developed HHMA. Most patients were male (29; 70.7%), the median age at the first episode was approximately four months, and episodes occurred predominantly during summer. The biochemical profile was characterized by metabolic alkalosis, hyponatremia, hypokalemia, and hypochloremia. The F508del variant was the most common allele [F508del homozygous, 9 (22.0%); F508del heterozygous, 21 (51.2%); without the F508del variant, 11 (26.8%)], particularly among patients with recurrent episodes, which occurred in 9\/11 (81.8%) cases. The most frequent clinical manifestations were dehydration, cough, and vomiting, although some patients presented with minimal symptoms. Management primarily consisted of intravenous and oral hydration, electrolyte replacement, and antibiotic therapy when indicated, with no HHMA-related deaths observed. The characterization of the CFTR genetic profile and its comparison with the broader cystic fibrosis population followed at the reference center provide additional insights into the genetic background of HHMA in a genetically diverse population. Taken together with findings from the national and international literature, these results indicate that HHMA is a relatively frequent and potentially recurrent complication of cystic fibrosis, particularly during early life, and may be influenced by both genetic and environmental factors. Early recognition, systematic electrolyte monitoring, and appropriate salt and fluid replacement may prevent severe complications and improve clinical management.<\/jats:p>","DOI":"10.3390\/ijms27177668","type":"journal-article","created":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T08:02:27Z","timestamp":1787817747000},"page":"7668","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hypokalemic Hypochloremic Metabolic Alkalosis in Cystic Fibrosis: A Retrospective Observational Study with Clinical Characterization, CFTR Genetic Profiling, and a Comparative Genetic Analysis with Patients from a Brazilian Reference Center"],"prefix":"10.3390","volume":"27","author":[{"given":"Andressa Oliveira","family":"Peixoto","sequence":"first","affiliation":[{"name":"Pediatric Research Center, Faculty of Medical Sciences, University of Campinas (Unicamp\u2014Universidade de Campinas), Campinas 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa Ferreira","family":"Selicani","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, University of Sapuca\u00ed Valley (Univ\u00e1s\u2014Universidade do Vale do Sapuca\u00ed), Pouso Alegre 37550-000, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4192-8495","authenticated-orcid":false,"given":"Camila Bento","family":"Safi","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Pontifical Catholic University of Campinas (PUC-Campinas\u2014Pontif\u00edcia Universidade Cat\u00f3lica de Campinas), Campinas 13086-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Souza Paiva","family":"Borgli","sequence":"additional","affiliation":[{"name":"Pediatric Research Center, Faculty of Medical Sciences, University of Campinas (Unicamp\u2014Universidade de Campinas), Campinas 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adyl\u00e9ia Aparecida Dalbo Contrera","family":"Toro","sequence":"additional","affiliation":[{"name":"Pediatric Research Center, Faculty of Medical Sciences, University of Campinas (Unicamp\u2014Universidade de Campinas), Campinas 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nath\u00e1lia Mariana Santos","family":"Sansone","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology and Genetics, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Clinical and Molecular Microbiology, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"LunGuardian Research Group\u2014Epidemiology of Respiratory and Infectious Diseases, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea de Melo Alexandre","family":"Fraga","sequence":"additional","affiliation":[{"name":"Pediatric Research Center, Faculty of Medical Sciences, University of Campinas (Unicamp\u2014Universidade de Campinas), Campinas 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4955-4234","authenticated-orcid":false,"given":"Fernando Augusto Lima","family":"Marson","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology and Genetics, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Clinical and Molecular Microbiology, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"LunGuardian Research Group\u2014Epidemiology of Respiratory and Infectious Diseases, Postgraduate Program in Health Sciences and Postgraduate Program in Health Data Science, S\u00e3o Francisco University (USF\u2014Universidade S\u00e3o Francisco), Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3387-5642","authenticated-orcid":false,"given":"Jos\u00e9 Dirceu","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Pediatric Research Center, Faculty of Medical Sciences, University of Campinas (Unicamp\u2014Universidade de Campinas), Campinas 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/S0140-6736(09)60327-5","article-title":"Cystic Fibrosis","volume":"373","author":"Freedman","year":"2009","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1056\/NEJMra2216474","article-title":"Cystic Fibrosis","volume":"389","author":"Grasemann","year":"2023","journal-title":"N. 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