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.

doi:10.3390/ijms27177668

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Article

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.

International journal of molecular sciences - 27 Aug 2026

Peixoto Andressa Oliveira, Selicani Larissa Ferreira, Safi Camila Bento, Borgli Daniela Souza Paiva, Toro Adyléia Aparecida Dalbo Contrera, Sansone Nathália Mariana Santos, Fraga Andrea de Melo Alexandre, Marson Fernando Augusto Lima, Ribeiro José Dirceu

Abstract excerpt

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...

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Topics

Humans
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Retrospective Studies

Brazil

Alkalosis

Hypokalemia

Female

Infant

Child, Preschool

Child

Mutation

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 42737565
DOI: 10.3390/ijms27177668
PMCID: PMC13566040

Genes

CFTR

Provenance

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