Topic
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.
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01 Jan 2015
TL;DR: The respiratory system comprises the lips and palate, larynx, trachea, lungs, and diaphragm, and their development and abnormalities of development are described, and chronic lung disease, “old” and “new,” are described.
Abstract: The respiratory system comprises the lips and palate, larynx, trachea, lungs, and diaphragm, and their development and abnormalities of development are described. Pulmonary cystic disease forms one such group of developmental abnormalities and includes congenital lobar emphysema, congenital pulmonary adenomatoid malformation (CPAM), and pulmonary sequestration. Maturation of the lung can be terminated if delivery occurs early, leading to respiratory distress clinically, which has been ameliorated by antenatal steroids and antioxidants and postdelivery surfactant therapy. The causes and pathology of respiratory distress in the newborn are described; these include hyaline membrane disease and meconium aspiration syndrome, as well as rarer entities such as surfactant protein deficiency and alveolar capillary dysplasia. The clinical and pathology characteristics of chronic lung disease have changed over the last 20 years, and bronchopulmonary dysplasia, “old” and “new,” are described.
8 citations
TL;DR: The case of a neonate with persistent pulmonary hypertension, associated with duodenal stenosis secondary to annular pancreas and intestinal malrotation, is reported, which is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of FOXF1 in a patient with ACD/MPV.
Abstract: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, neonatal developmental lung disorder, which usually presents as persistent pulmonary hypertension unresponsive to treatment. The authors report the case of a neonate with persistent pulmonary hypertension, associated with duodenal stenosis secondary to annular pancreas and intestinal malrotation. Support treatment, inhaled nitric oxide, oral sildenafil and nebulized iloprost were used with no clinical improvement. The neonate presented an overwhelming course, with hypoxemia refractory to treatment. At autopsy lung histology showed the characteristic features of ACD/MPV. DNA sequence analysis revealed a heterozygous nonsense mutation c.539C>A;p.S180X, in the first exon of FOXF1. FOXF1 has been identified as one of the genes responsible for ACD/MPV associated with multiple congenital malformations. This clinical case is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of FOXF1, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation.
8 citations
TL;DR: This is the first description of an association between these two rare malformations and a causative link between CCAM and ACD is possible, although it is unlikely that ACD should always be considered as a cause of severe PPHN when persistent beyond 10 days.
Abstract: Objective First report of a term neonate with coexistent congenital cystic adenomatoid malformation (CCAM) of the lung and alveolar capillary dysplasia (ACD) Methods and design Case report and literature review Our institutional review board waived the need for consent Setting We describe a term neonate with antenatally diagnosed CCAM and persistent pulmonary hypertension of the newborn (PPHN) who underwent right upper lobe resection on day 9 of life Histology confirmed CCAM but closer examination also showed ACD Postoperatively pulmonary hypertension persisted despite high-frequency oscillation and inhaled nitric oxide, and she was placed on extracorporeal membrane oxygenation Due to the lack of any improvement, intensive care treatment was withdrawn 4 days later Conclusions This is the first description of an association between these two rare malformations Although a causative link between CCAM and ACD is possible, it is unlikely ACD should always be considered as a cause of severe PPHN when persistent beyond 10 days, even if another etiology of PPHN is present
8 citations
TL;DR: It is suggested that lung vasculogenesis endures throughout gestation, since each pathologic state is represented by a single case in this cohort, and further studies are required to clarify this issue.
Abstract: Endoglin is a 180 KDa glycoprotein mainly expressed on endothelial cells of newly formed vessels. Its expression is increased by the hypoxia inducible factor 1 (HIF-1), a potent stimulator of VEGF expression. The relative hypoxic environment in which foetal lung develops favours HIF-1 dependent gene expression, including the endoglin and VEGF ones. Herein, we analysed endoglin immunoexpression in the human neonatal and foetal lung throughout gestation. Lungs from 18 foetuses (9-41 weeks), 7 preterm and 2 term infants were submitted to the immunohistochemical study. A slight immunostaining was found in some mesenchymal aggregates in the lungs of foetuses at the first trimester of pregnancy. At mid gestation, endoglin was evidenced in peri-tubular mesenchymal stem cells or in peri-canalicular vessels and in the endothelia of peri-bronchial vessels; by contrast, no immunoreaction was observed in case of Down syndrome or in a foetus with cardiac malformations. At late gestation and in preterm infants, endoglin antibody labelled endothelia of the alveolar capillaries and of peri-bronchial vessels. In case of alveolar capillary dysplasia (ACD) or macrosomy associated with maternal diabetes, endoglin expression was restricted to peri-bronchial vessels; no immunoreaction was encountered in foetuses with IUGR (intra-uterine growth restriction) or massive pulmonary haemorrhage. Lungs of term infants both displayed atelectasis; there was no evidence of endoglin immunoexpression in one case, whereby only the endothelia of peri-bronchial vessels were stained in the other. Our study suggests that lung vasculogenesis endures throughout gestation. Absence of endoglin staining in some pathologic conditions may reflect lung vasculogenesis disorders; nonetheless, since each pathologic state is represented by a single case in our cohort, further studies are required to clarify this issue.
8 citations
TL;DR: The case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension, is reported.
Abstract: We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.
8 citations