严重支气管肺发育不良而无肺泡毛细血管发育不良的遗传诊断的组织学特征和肺 FOXF1 基因表达降低。
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia.
机构信息
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.
出版信息
Pediatr Pulmonol. 2023 Oct;58(10):2746-2749. doi: 10.1002/ppul.26571. Epub 2023 Jul 4.
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.
我们报告了一例 10 月龄的早产儿病例，该患儿患有严重的支气管肺发育不良（sBPD）合并难治性肺动脉高压和呼吸衰竭，其组织学特征显著符合肺泡毛细血管发育不良伴肺静脉错位（ACDMPV）的诊断，但未得到该诊断的基因确认。我们进一步证明 sBPD 中肺 FOXF1 和 TMEM100 的含量显著降低，提示 ACDMPV 和 sBPD 之间存在共同的机制联系，FOXF1 信号受损。
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