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

Pediatr Pulmonol. 2023 Oct;58(10):2746-2749. doi: 10.1002/ppul.26571. Epub 2023 Jul 4.

Abstract

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.

Keywords: FOXF1; TMEM; alveolar capillary dysplasia; bronchopulmonary dysplasia; histopathology; lung development.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Bronchopulmonary Dysplasia* / diagnosis
  • Bronchopulmonary Dysplasia* / genetics
  • Bronchopulmonary Dysplasia* / pathology
  • Forkhead Transcription Factors / genetics
  • Gene Expression
  • Humans
  • Infant
  • Infant, Premature
  • Lung / diagnostic imaging
  • Lung / pathology
  • Membrane Proteins / genetics
  • Persistent Fetal Circulation Syndrome* / diagnosis
  • Persistent Fetal Circulation Syndrome* / genetics
  • Pulmonary Alveoli / pathology

Substances

  • Forkhead Transcription Factors
  • FOXF1 protein, human
  • Membrane Proteins
  • TMEM100 protein, human

Supplementary concepts

  • Alveolar capillary dysplasia