TY - JOUR T1 - Diffuse pulmonary development disorders- Molecular definable causes of pulmonary hypertension in the mature newborn JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2015.PA1867 VL - 46 IS - suppl 59 SP - PA1867 AU - Meike Hengst AU - Nicolaus Schwerk AU - Jost Wigand Richter AU - Hans Fuchs AU - Lars Welzing AU - Mathias Klemme AU - Matthias Griese Y1 - 2015/09/01 UR - http://erj.ersjournals.com/content/46/suppl_59/PA1867.abstract N2 - Background: Acinar dysplasia and alveolar capillary dysplasia are rare interstitial lung diseases, belonging to the diffuse developmental disorders of the lungs. About 10% of the cases are familiar, 40% carry a FOXF1-mutation. Usually disease starts on the first days of life with severe hypoxia, and is mostly lethal during the newborn period.Aims: Investigate the clinical, histological and genetic spectrum of this orphan disease and differentiate subtypesMethods: All patients categorized as diffuse developmental disorder in the kids lung register were searched. Diagnosis was made by lung biopsy or autopsy. Between October 2004 and October 2014 11 children were observed and analysed retrospectively.Results: All children had a need for oxygen during the neonatal time. 7 children developed severe hypoxemia and pulmonary hypertension at the latest 48 hours after initial good adaptation. An infant with an omphalocele and one preterm-infant needed oxygen immediately after birth. In one infant symptoms started not until day 12 of life, he showed complete remission at the age of 29 days. Outcome was lethal in 8 children at an average age of 44 days. In 4 patients FOXF1 gene was analysed and two heterozygote deletions were detected.Conclusion: Diffuse developmental disorders of the lungs represent a rare but important differential diagnosis in children with hypoxemia and pulmonary hypertension. Fatality was associated with histologic pattern, i.e. presence of misalignment of the pulmonary veins. Screen for disease causing mutations in the FOXF1-gene, particular in infants with associated malformations, may reduce the number of lung biopsies necessary for diagnosis. ER -