Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis

Castilla-Fernandez, Y; Copons-Fernández, C; Jordan-Lucas, R; Linde-Sillo, Á; Valenzuela, Irene; Ferreres, Joan Carles; Moreno‐Galdó, Antonio; Salinas, Félix Castillo

doi:10.1038/jp.2012.63

Cited by 9 publications

(14 citation statements)

References 13 publications

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“…FOXF1 is involved in mesenchymalepithelial interactions during development of the gastrointestinal tract and lungs as it is expressed in splanchnic mesenchyme closely opposed to endoderm [20]. It was proposed that FOXF1 point mutations were associated with bowel malrotation (as in one of our cases), while FOXF1 microdeletions appear to be linked with hypoplastic left heart syndrome and gastrointestinal atresias caused by involvement of adjacent genes FOXC2 and FOXL17.…”

Section: Discussionmentioning

confidence: 67%

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Goel

Oei

Lui

et al. 2017

Clinical Case Reports

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Key Clinical MessageAlveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well‐being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.

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Section: Discussionmentioning

confidence: 67%

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Goel

Oei

Lui

et al. 2017

Clinical Case Reports

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“…Thus far, 44 heterozygous point mutations [29, 31, 50-52] and 36 heterozygous genomic deletions involving FOXF1 or upstream of FOXF1 in 16q24.1 have been reported [29, 37, 53-57]. Additionally, a 1.1 Mb genomic deletion involving FOXF1 was detected in a prenatal case with cystic hygroma [58].…”

Section: Introductionmentioning

confidence: 99%

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

Dharmadhikari

Szafrański²,

Kalinichenko

et al. 2015

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The FOXF1 (Forkhead box F1) gene, located on chromosome 16q24.1 encodes a member of the FOX family of transcription factors characterized by a distinct forkhead DNA binding domain. FOXF1 plays an important role in epithelium-mesenchyme signaling, as a downstream target of Sonic hedgehog pathway. Heterozygous point mutations and genomic deletions involving FOXF1 have been reported in newborns with a lethal lung developmental disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). In addition, genomic deletions upstream to FOXF1 identified in ACDMPV patients have revealed that FOXF1 expression is tightly regulated by distal tissue-specific enhancers. Interestingly, FOXF1 has been found to be incompletely paternally imprinted in human lungs; characterized genomic deletions arose de novo exclusively on maternal chromosome 16, with most of them being Alu-Alu mediated. Regulation of FOXF1 expression likely utilizes a combination of chromosomal looping, differential methylation of an upstream CpG island overlapping GLI transcription factor binding sites, and the function of lung-specific long non-coding RNAs (lncRNAs). FOXF1 knock-out mouse models demonstrated its critical role in mesoderm differentiation and in the development of pulmonary vasculature. Additionally, epigenetic inactivation of FOXF1 has been reported in breast and colorectal cancers, whereas overexpression of FOXF1 has been associated with a number of other human cancers, e.g. medulloblastoma and rhabdomyosarcoma. Constitutional duplications of FOXF1 have recently been reported in congenital intestinal malformations. Thus, understanding the genomic and epigenetic complexity at the FOXF1 locus will improve diagnosis, prognosis, and treatment of ACDMPV and other human disorders associated with FOXF1 alterations.

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“…These changes are generally represented by pulmonary arterioles lumen narrowing caused by muscular tunic hypertrophy and extension of smooth muscle to the intraacinar branches (normally without muscle fibers), or by poor pulmonary vessels development that reduces the size of the pulmonary vascular bed and thus increases blood flow resistance. Organic forms of PPHN include rare, and almost always fatal, cases of alveolar capillary dysplasia caused by diffuse misalignment of the arteriolar capillary venous axis that compromises respiratory exchange [ 23 ]. Both functional and organic forms of PPHN can be primary or secondary and have diverse causes [ 24 ].…”

Section: Introductionmentioning

confidence: 99%

“…Impairment of alveolarization and vascular growth associated with reduced VEGF expression has been reported also in animals with chronic intrauterine pulmonary hypertension induced by ductus ligation [ 55 ]. The hypoplastic CDH lung, in addition to reduced vessels density, presents increased vascular reactivity to vasoconstricting stimuli associated with reduced nitric oxide synthase (NOS) expression and elevated endothelin production [ 23 , 56 , 57 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular physiopathogenetic mechanisms and development of new potential therapeutic strategies in persistent pulmonary hypertension of the newborn

Distefano

Sciacca

2015

Ital J Pediatr

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Persistent pulmonary hypertension of the newborn (PPHN) is a cyanogenic plurifactorial disorder characterized by failed postnatal drop of pulmonary vascular resistance and maintenance of right-to-left shunt across ductus arteriosus and foramen ovale typical of intrauterine life. The pathogenesis of PPHN is very complex and can result from functional (vasoconstriction) or structural (arteriolar remodeling, reduced pulmonary vessels density) anomalies of pulmonary circulation. Etiopathogenetic factors heterogeneity can strongly condition therapeutical results and prognosis of PPHN that is particularly severe in organic forms that are usually refractory to selective pulmonary vasodilator therapy with inhaled nitric oxide. This paper reports the more recent acquisitions on molecular physiopathogenetic mechanisms underlying functional and structural forms of PPHN and illustrates the bases for adoption of new potential treatment strategies for organic PPHN. These strategies aim to reverse pulmonary vascular remodeling in PPHN with arteriolar smooth muscle hypertrophy and stimulate pulmonary vascular and alveolar growth in PPHN associated with lung hypoplasia.In order to restore lung growth in this severe form of PPHN, attention is focused on the results of studies of mesenchymal stem cells and their therapeutical paracrine effects on bronchopulmonry dysplasia, a chronic neonatal lung disease characterized by arrested vascular and alveolar growth and development of pulmonary hypertension.

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Alveolar capillary dysplasia with misalignment of pulmonaryz veins: concordance between pathological and molecular diagnosis

Cited by 9 publications

References 13 publications

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

Molecular physiopathogenetic mechanisms and development of new potential therapeutic strategies in persistent pulmonary hypertension of the newborn

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