Gabriëla G. Edel, Janna A. Hol, Evelien Slot, Jan H. von der Thüsen, Yolande van Bever, Rogier C.J. de Jonge, Marianne van Tienhoven, Hennie T. Bruggenwirth, Annelies de Klein, Robbert J. Rottier
Erasmus MC Sophia Children’s Hospital.
Netherlands
Laboratory Investigation
Lab Invest 2023;
DOI: 10.1016/j.labinv.2023.100233
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary Veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regiments and suffer unnecessarily, because ACDMPV is not always timely recognized and histological diagnosis is invasive and time-consuming. Here, we demonstrate the usefulness of a non-invasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.
Category
Class III. Pulmonary Hypertension Associated with Developmental Diseases of the Lung
Genetic Factors Associated with Pulmonary Vascular Disease
Diagnostic Testing for Pulmonary Vascular Disease. Non-invasive Testing
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes