Semin Perinatol. 2019 Jul 30:151170. doi: 10.1053/j.semperi.2019.07.009. [Epub ahead of print]
https://www.ncbi.nlm.nih.gov/pubmed/31427115
Basic and translational science advances in congenital diaphragmatic hernia.
Wagner R1, Montalva L2, Zani A3, Keijzer R4.
Author information
1Departments of Surgery, Division of Pediatric Surgery, Pediatrics & Child Health and Physiology & Pathophysiology (Adjunct), University of Manitoba and Children’s Hospital Research Institute of Manitoba, Biology of Breathing Theme, Winnipeg, Manitoba, Canada; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.2Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, Canada and Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada; Department of Pediatric Surgery, Hospital Robert Debré, Paris, France.3Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, Canada and Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.4Departments of Surgery, Division of Pediatric Surgery, Pediatrics & Child Health and Physiology & Pathophysiology (Adjunct), University of Manitoba and Children’s Hospital Research Institute of Manitoba, Biology of Breathing Theme, Winnipeg, Manitoba, Canada. Electronic address: richard.keijzer@umanitoba.ca.
Abstract
Congenital Diaphragmatic Hernia (CDH) is a birth defect that is characterized by lung hypoplasia, pulmonary hypertension and a diaphragmatic defect that allows herniation of abdominal organs into the thoracic cavity. Although widely unknown to the public, it occurs as frequently as cystic fibrosis (1:2500). There is no monogenetic cause, but different animal models revealed various biological processes and epigenetic factors involved in the pathogenesis. However, the pathobiology of CDH is not sufficiently understood and its mortality still ranges between 30 and 50%. Future collaborative initiatives are required to improve our basic knowledge and advance novel strategies to (prenatally) treat the abnormal lung development. This review focusses on the genetic, epigenetic and protein background and the latest advances in basic and translational aspects of CDH research.
Copyright © 2019 Elsevier Inc. All rights reserved.
KEYWORDS:
Basic science; Congenital diaphragmatic hernia; Preclinical studies; Translational sciencePMID: 31427115 DOI: 10.1053/j.semperi.2019.07.009
