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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
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.
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.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Cystic Fibrosis (CF) newborn screening (CF-NBS) identifies infants at risk.
- Pseudo-Bartter syndrome (PBS) is a rare condition with overlapping symptoms.
- CFTR-related disorder (CFTR-RD) encompasses conditions with CFTR gene variants but not classic CF.
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