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Published on: February 5, 2021
Congenital diaphragmatic hernia and retinoids: searching for an etiology
Sandra Montedonico1, Nana Nakazawa, Prem Puri
1The Children's Research Centre, Our Lady's Children's Hospital, Dublin 12, Ireland. sandramontedonico@hotmail.com
Insights
Congenital diaphragmatic hernia (CDH) is a severe newborn respiratory issue. Evidence suggests a disrupted retinoid-signaling pathway contributes to CDH development, impacting diaphragm and lung formation.
Area of Science:
- Developmental biology
- Genetics
- Neonatal medicine
Background:
- Congenital diaphragmatic hernia (CDH) is a critical condition causing neonatal respiratory failure.
- Emerging research implicates disruptions in the retinoid-signaling pathway in CDH pathogenesis.
Purpose of the Study:
- To explore the epidemiology and pathophysiology of human CDH.
- To detail retinoid metabolism and its role in diaphragm and lung development.
- To present evidence linking retinoid-signaling pathway disruption to CDH.
Main Methods:
- Literature review of epidemiological data.
- Analysis of retinoid metabolism and developmental implications.
- Synthesis of existing evidence on retinoid signaling in CDH.
Main Results:
- CDH is a significant cause of newborn respiratory failure.
- Retinoids play a crucial role in fetal diaphragm and lung development.
- Disruption of the retinoid-signaling pathway is evident in CDH cases.
Conclusions:
- Retinoid signaling is vital for normal diaphragm and lung development.
- Aberrations in this pathway are implicated in the etiology of congenital diaphragmatic hernia.
Abstract:
Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of respiratory failure in the newborn. Recent data reveal the role of a retinoid-signaling pathway disruption in the pathogenesis of CDH. We describe the epidemiology and pathophysiology of human CDH, the metabolism of retinoids and the implications of retinoids in the development of the diaphragm and lung. Finally, we describe the existing evidence of a disruption of the retinoid-signaling pathway in CDH.
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