The etiology of congenital diaphragmatic hernia (CDH) is not yet known
. Studies in the literature from 1941 have reported that nutritional d
eficiency of vitamin A during pregnancy could lead to CDH, associated
or not with other malformations in young rats. More recently, possible
correlations between expression patterns of cellular retinoid-binding
protein and retinoic-acid receptors and morphologic effects of vitami
n A deficiency have been suggested. The purpose of this study was to v
erify in human newborns the possible link between vitamin A deficiency
and CDH previously observed in experimental animals. Blood samples we
re obtained during the first hours after birth from 11 term CDH newbor
ns and 11 healthy controls matched for gestational age, and also from
7 mothers in each group, for a total of 7 newborn-mother pairs of matc
hed CDH-controls. Plasma retinol was measured by high-performance liqu
id chromatography and retinol-binding protein (RBP) by nephelometry. I
n the 11 matched CDH-control newborns, plasma retinol and REP levels i
n CDH newborns were 50% less than control values (P < 0.0002 and < 0.0
06, respectively); in contrast, retinol levels in CDH mothers were sig
nificantly higher than those of control mothers (P < 0.005). The obser
vation that the plasma concentrations of retinol and REP are low in in
fants with CDH relative to controls may be clinically very relevant an
d may help to elucidate the mechanism of development of this congenita
l anomaly.