Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

ABSTRACT: Lethal lung developmental disorders are a rare but important group of pediatric diffuse lung diseases presenting with neonatal respiratory failure. On the basis of histopathological appearance at lung biopsy or autopsy, they have been termed: alveolar capillary dysplasia with misalignment of the pulmonary veins, acinar dysplasia, congenital alveolar dysplasia, and other unspecified primary pulmonary hypoplasias. However, the histopathological continuum in these lethal developmental disorders has made accurate diagnosis challenging, which has implications for recurrence risk. Over the past decade, genetic studies in infants with alveolar capillary dysplasia with misalignment of the pulmonary veins have revealed the causative role of the dosage-sensitive FOXF1 gene and its noncoding r

SUBMITTER: Vincent M 

PROVIDER: S-EPMC6888654 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature