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.

Is adrenomedullin involved in the pathophysiology of persistent pulmonary hypertension of the newborn

Abstract: Although adrenomedullin (ADM) is a potent vasodilating peptide reported to play a possible role in the mechanisms of fetal lung differentiation and maturation, the ADM blood level in fetuses and in neonates with persistent pulmonary hypertension (PPHN) and pulmonary hypoplasia is not known. Therefore, we examined 15 patients with PPHN: 10 with congenital diaphragmatic hernia, four with congenital cystic adenomatoid malformation of the lung, and one with misalignment of pulmonary vessels with alveolar capillary dysplasia. Eight surgical patients with neonatal conditions such as intestinal atresia served as controls. Blood samples were drawn from the umbilical artery and vein at birth, and arterial blood was drawn from patients with PPHN on the 3rd and 6th days after birth. Plasma levels of ADM were measured by radiometric assay. Plasma levels of ADM in the umbilical artery and vein were elevated in patients with PPHN compared with controls, and in all groups the levels in the umbilical vein were higher than those in the umbilical artery. The arterial levels in patients with poor prognoses were elevated on the 3rd and 6th days after birth compared with those in survivors. These results indicate that ADM may be involved in the pathophysiology of PPHN and in the mechanisms of lung differentiation and/or maturation.

Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1.

Abstract: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare congenital malformation in newborns that results in severe respiratory distress and pulmonary hypertension. Confirmatory diagnosis can be made only on histology. Characteristic histological features consist of reduction of the number of capillaries, malpositioning within the walls of the alveoli and thickening of the muscle layer of the pulmonary arteries. Recently, haploinsufficiency of FOXF1 was reported as a cause of ACD/MPV. Here, we report the identification of a new mutation of FOXF1 on direct gene sequencing in a newborn boy with ACD/MPV and multiple congenital anomalies who died of irreversible pulmonary hypertension on postnatal day 3.

Congenital Alveolar Capillary Dysplasia and New Associations: A CaseSeries with a Report of New Associations and Literature Review

Abstract: Congenital Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD-MPV) is a rare and a lethal cause of neonatal respiratory failure and severe hypoxemia, secondary to persistent pulmonary hypertension (PPHN). It is refractory to all standard medical therapies including High Frequency Ventilation (HFV), inspired Nitric Oxide (iNO), and Extracorporeal Membrane Oxygenation (ECMO). According to the Online Mendelian Inheritance in Man (OMIM), it is caused by heterozygous mutation in the FOXF1 gene on chromosome 16q24. Newer study has suggested that two other genes can cause (ESRP1) or function as modifiers (PLXNB2) of the ACDMPV phenotype. Most reported cases of ACD-MPV had multiple congenital non-lethal anomalies. Here, we report six cases of autopsyproven ACD-MPV from a single institution during a seven year period. Medical information was obtained from the electronic medical records. Pathology slides were read and confirmed by pediatric pathologists of two different university hospitals. Novel findings include an association with previously undescribed congenital anomalies and a sibling with congenital alveolar dysplasia without capillary dysplasia. All patients presented in the newborn period, with severe hypoxemia and echocardiogram (Echo)-confirmed PPHN. The vast majority of ACDMPV cases continue to be diagnosed by autopsy, after the infants have been subjected to extreme degree of intensive care. ACD-MPV needs to be considered as a diagnostic possibility when ECMO fails.