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Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Author information

1
1 Department of Pediatric Surgery, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.
2
2 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
3
3 Division of Pathology, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.
4
4 Department of Neonatology, Radboud University Medical Center -Amalia Children's Hospital, Nijmegen, The Netherlands.
5
5 Department of Translational Medicine, Hospital for Sick Children, Toronto, ON, Canada.

Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1. This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.

KEYWORDS:

bronchopulmonary dysplasia; neonatal lung disease; pulmonary development; pulmonary vascular biology; transcription factors

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