Article
A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation.
Diagnostic pathology - 9 May 2020
Kitano Akiko, Nakaguro Masato, Tomotaki Seiichi, Hanaoka Shintaro, Kawai Masahiko, Saito Akiko, Hayakawa Masahiro, Takahashi Yoshiyuki, Kawasaki Hidenori, Yamada Takahiro, Ikeda Masahiko, Onda Tetsuo, Cho Kazutoshi, Haga Hironori, Nakazawa Atsuko, Minamiguchi Sachiko
Abstract excerpt
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare disorder of pulmonary vascular abnormality with persistent pulmonary hypertension of the newborn. The symptom usually presents within hours after birth, leading to an early demise. Heterozygous de novo point mutations and genomic deletions of the FOXF1 (forkhead box F1) gene or its upstream enhancer have been...
Topics
- Endothelial Cells
- Female
- Forkhead Transcription Factors
- Humans
- Infant, Newborn
- Male
- Mutation
- Persistent Fetal Circulation Syndrome