Alveolar capillary dysplasia

About: Alveolar capillary dysplasia is a research topic. Over the lifetime, 219 publications have been published within this topic receiving 5569 citations. The topic is also known as: Alveolar capillary dysplasia with misalignment of pulmonary veins.

Pulmonary alveolar capillary dysplasia in infants: A rare and deadly missed diagnosis

Abstract: The pulmonary alveolocapillary dysplasia (ACD) with pulmonary vein misalignment (PVM) is a rare condition characterized by a congenital anomaly of the development of the pulmonary parenchyma. We present a case of an 8-month-old infant who died quickly from acute respiratory failure complicating an unknown ACD. We also describe its epidemiological characteristics in infants and we discuss the diagnosis's difficulties. In this case, a pulmonary arterial hypertension was decompensated by an infection. A medico-legal autopsy was performed. As for the Histological examination, it showed the features of ACD/PVM.

Genetic Pediatric Pulmonary Disease

Abstract: Genomic medicine is of increasing importance in all medical specialties, including pediatric pulmonology. Lung manifestations commonly observed in the pediatric pulmonary clinic are often multifactorial in origin, but phenotypes, including neonatal respiratory distress, interstitial lung disease, bronchiectasis, pulmonary fibrosis, vascular abnormalities, and pneumothorax, have a strong association to certain genetic conditions, and a genetic differential diagnosis should be considered in these patients. This chapter discusses the clinical features and radiological findings of several childhood onset genetic conditions with significant respiratory involvement. Conditions reviewed include surfactant deficiencies, brain-lung-thyroid syndrome, pulmonary alveolar proteinosis, primary ciliary dyskinesia, immune deficiencies, short telomere syndromes, Hermansky Pudlak syndrome, alveolar capillary dysplasia, pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia, connective tissue disorders, and Birt-Hogg-Dube syndrome.

Diffuse pulmonary development disorders- Molecular definable causes of pulmonary hypertension in the mature newborn

Abstract: 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 subtypes Methods: 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.