Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia.

Autor: Galambos C; Department of Pathology and Laboratory Medicine, University of Colorado Anschutz School of Medicine, Aurora, Colorado, USA.; Department of Pediatrics, Pediatric Heart Lung Center and the Section of Pulmonary Medicine, University of Colorado Anschutz School of Medicine, Aurora, Colorado, USA., Logan JW; Section of Neonatology, Wolfson Children's Hospital and the University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Zalles C; Department of Pathology, Wolfson Children's Hospital and the University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA., Gonzales J; Section of Neonatology, Wolfson Children's Hospital and the University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA., Nath S; Section of Neonatology, Wolfson Children's Hospital and the University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA., Patel S; Section of Neonatology, Wolfson Children's Hospital and the University of Florida College of Medicine - Jacksonville, Jacksonville, Florida, USA., Abman SH; Department of Pediatrics, Pediatric Heart Lung Center and the Section of Pulmonary Medicine, University of Colorado Anschutz School of Medicine, Aurora, Colorado, USA.
Jazyk: angličtina
Zdroj: Pediatric pulmonology [Pediatr Pulmonol] 2023 Oct; Vol. 58 (10), pp. 2746-2749. Date of Electronic Publication: 2023 Jul 04.
DOI: 10.1002/ppul.26571
Abstrakt: We report the case of a preterm infant who died at 10 months of age with severe bronchopulmonary dysplasia (sBPD) with refractory pulmonary hypertension and respiratory failure who had striking histologic features compatible with the diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) but without genetic confirmation of the diagnosis. We further demonstrate dramatic reductions in lung FOXF1 and TMEM100 content in sBPD, suggesting common mechanistic links between ACDMPV and sBPD with impaired FOXF1 signaling.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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