Linking animal models to human congenital diaphragmatic hernia.
BACKGROUND
Congenital diaphragmatic hernia (CDH) is a major life-threatening malformation, occurring in approximately 1 in 3,000 live births. Over the years, different animal models have been used to gain insight into the etiology of this complex congenital anomaly and to develop treatment strategies. However, to date the pathogenic mechanism is still not understood, and treatment remains difficult because of the associated pulmonary hypoplasia and pulmonary hypertension.


METHODS
In this review, data available from several animal models will be discussed. The retinoic acid signaling pathway (RA pathway, retinoid pathway) will be addressed as a developmental pathway that is potentially disrupted in the pathogenesis of CDH. Furthermore, genetic factors involved in diaphragm and lung development will be discussed.


CONCLUSIONS
With this review article, we aim to provide a concise overview of the current most important experimental genetic data available in the field of CDH.
Beurskens
Niels
N
Department of Pediatric Surgery, Erasmus MC, Rotterdam, The Netherlands.
Klaassens
Merel
M
Rottier
Robbert
R
de Klein
Annelies
A
Tibboel
Dick
D
D000818:Animals; D003964:Diaphragm / Q000002:abnormalities*; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D006548:Hernia, Diaphragmatic / Q000209:etiology* / Q000378:metabolism; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D012176:Retinoids / Q000378:metabolism; D015398:Signal Transduction
D012176:Retinoids