Pseudo-Bartter syndrome: A CFTR-related disorder?

Noelia Rodriguez Mier1, Virginie Antoons2, Senne Cuyx1

  • 1Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium.

Summary

Pseudo-Bartter syndrome can be a rare presentation of cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD). Functional CFTR testing is crucial for accurate diagnosis in infants with intermediate sweat chloride levels.

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