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Alveolar capillary dysplasia

About: Alveolar capillary dysplasia is a research topic. Over the lifetime, 219 publications have been published within this topic receiving 5569 citations. The topic is also known as: Alveolar capillary dysplasia with misalignment of pulmonary veins.


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Journal ArticleDOI
09 Apr 2021-Medicine
TL;DR: Wang et al. as discussed by the authors reported a new case of a 3-month-old Chinese girl with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) that results in severe respiratory distress and pulmonary hypertension.

1 citations

Journal ArticleDOI
TL;DR: Genetic defects affecting the FOXF1 pathway affect the mesenchymal, endothelial and epithelial cross-talk leading to lung developmental disruption, pulmonary hypertension and hypoxic respiratory failure.
Abstract: Background/aims Alveolar capillary dysplasia (ACD) is characterised by pulmonary veins misalignment, capillary paucity and alveolar misdevelopment, and caused by FOXF1 mutations only in 40% of cases. Objectives were 1. to identify known and new gene defects and 2. to correlate them with molecular/cellular mechanisms. Methods We recruited a cohort of 23 pathology-confirmed cases. When DNA was available, genome-wide copy number variation was analysed through Array Comparative Genomic Hybridization (aCGH). Mutations were tested by direct sequencing of FOXF1 and candidate genes identified by aCGH; Molecular pathways were analysed by multi-channel immunofluorescence microscopy of ACD cases compared to human fetal/neonatal lung tissue at various development stages. Results Genomic deletions or mutations were identified in 57% of tested cases. Besides FOXF1, two of the genes involved stand out as potential candidates: MEOX2 and TBX4. ACD cases showed a markedly decreased expression of c-kit, a marker expressed in pulmonary small arteries and capillaries in fetal lung controls. In normal fetal lungs FOXF1 and TBX4 were prevalently expressed at the mesenchymal-epithelial border, and MEOX2 in pulmonary vascular smooth muscle cells (PVSMC). Their expression pattern and intensity were altered in all ACD cases, indicating that decreased FOXF-1 and/or its downstream transcription factor TBX4 disrupt lung micro vessel formation and homing to alveolar epithelium, and that a similar phenotype may derive from dysregulated PVSMC proliferation and angiogenesis related to MEOX2 insufficiency. Conclusion Genetic defects affecting the FOXF1 pathway affect the mesenchymal, endothelial and epithelial cross-talk leading to lung developmental disruption, pulmonary hypertension and hypoxic respiratory failure.

1 citations

Journal ArticleDOI
TL;DR: In this paper, pathologic patterns in the neonatal lung and correlation with molecular abnormalities are described, where appropriate, in order to guide important medical decisions when the diagnosis is not clear from prior clinical assessment, imaging, or genetic testing.

1 citations

Journal ArticleDOI
01 Jun 2014-Breathe
TL;DR: Think about chILD if a child has chronic, unremitting tachypnoea, retractions, crackles and failure to thrive, and be alert to comorbidities, complications of disease or treatment, or signs of recurrent or worsening lung disease.
Abstract: Definition Childhood interstitial lung disease (chILD) includes a range of rare disorders of the lung parenchyma (and, sometimes, airways) that have certain clinical features in common Specific conditions within chILD include surfactant protein B or C deficiency, alveolar capillary dysplasia with misalignment of lung veins, pulmonary interstitial glycogenosis, neuroendocrine cell hyperplasia, hypersensitivity pneumonitis, eosinophilic pneumonia, lymphocytic interstitial pneumonia, alveolar proteinosis, granulomatosis with polyangiitis, sarcoidosis, lung alveolar proteinosis, and Langerhans’ cell histiocytosis chILD may complicate other disorders including inflammatory bowel disease and liver disease In many children with chILD, no specific diagnosis can be made Key messages Think about chILD if a child has chronic, unremitting tachypnoea, retractions, crackles and failure to thrive Symptoms of early chILD are very unspecific and may be missed unless there is a high level of suspicion Refer the patient to a specialist centre in paediatric pulmonology Follow your patient longitudinally in collaboration with the reference centre, and be alert to comorbidities, complications of disease or treatment, or signs of recurrent or worsening lung disease

1 citations

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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202116
202013
20199
20185
20178
201614