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Article

Pseudo-Bartter syndrome: A CFTR-related disorder?

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2025

Rodriguez Mier Noelia, Antoons Virginie, Cuyx Senne, Santo Ramalho Anabela, Boon Mieke, Proesmans Marijke, Mekahli Djalila, Vermeulen François

Abstract excerpt

This case report presents a 14-month-old boy with a history of cystic fibrosis (CF) carrier status, diagnosed following a positive newborn screening for CF (CF-NBS), who developed symptoms suggestive of Pseudo-Bartter syndrome (PBS). Despite initial evaluations not meeting CF diagnostic criteria, subsequent investigations revealed an intermediate sweat chloride concentration, a second CFTR mutation, and CFTR...

Read the complete abstract on PubMed

Topics

Humans
Cystic Fibrosis Transmembrane Conductance Regulator
Male
Cystic Fibrosis
Infant
Neonatal Screening

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

Bartter Syndrome

Sweat

Mutation

Infant, Newborn

Source

Identifiers

PMID: 39482189
DOI: 10.1016/j.jcf.2024.10.007

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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