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Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.

Annales de biologie clinique - 1 Aug 2017

Tinsa Faten, Hadj Fredj Sondes, Bel Hadj Imen, Khalsi Fatma, Abdelhak Sonia, Boussetta Khadija, Messaoud Taieb

Abstract excerpt

Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to CFTR gene

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Source

Identifiers

PMID: 28751295
DOI: 10.1684/abc.2017.1268

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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