Retinol status of newborn infants is associated with congenital diaphragmatic hernia.
OBJECTIVE
Genetic analyses in humans suggest a role for retinoid-related genes in the pathogenesis of congenital diaphragmatic hernia (CDH). The goal of this study was to investigate the vitamin A status of mothers and their newborns in association with CDH.


METHODS
We conducted a hospital-based, case-control study with 22 case and 34 control mothers and their newborns. In maternal and cord blood samples, retinol and retinol-binding protein (RBP) levels were measured with high-performance liquid chromatography and an enzyme-linked immunosorbent assay, respectively. Univariate and multivariate logistic regression analyses were performed to determine crude and adjusted risk estimates.


RESULTS
Case newborns had significantly lower levels of retinol (0.60 vs 0.76 μmol/L; P=.003) and RBP (5.42 vs 7.11 mg/L; P=.02) than did control newborns. The multivariate logistic regression analysis showed lower levels of retinol and RBP in association with CDH risk; the odds ratio for retinol levels of <15th percentile (<0.61 μmol/L) was 11.11 (95% confidence interval: 2.54-48.66; P=.001), and that for RBP levels of <15th percentile (<4.54 mg/L) was 4.00 (95% confidence interval: 1.00-15.99; P=.05). Retinol and RBP levels were not different between case and control mothers.


CONCLUSIONS
CDH is strongly associated with low retinol and RBP levels in newborns, independent of maternal retinol status. This is an important finding supporting the idea that human CDH is linked with abnormal retinoid homeostasis.
Beurskens
Leonardus W J E
LW
Department of Pediatric Surgery, Sophia's Children's Hospital, Erasmus Medical Center, University Medical Center Rotterdam, Department of Clinical Chemistry, Building Ee, Room 22-71a, PO Box 2040, 3000 CA Rotterdam, Netherlands.
Tibboel
Dick
D
Lindemans
Jan
J
Duvekot
Johannes J
JJ
Cohen-Overbeek
Titia E
TE
Veenma
Danielle C M
DC
de Klein
Annelies
A
Greer
John J
JJ
Steegers-Theunissen
Régine P M
RP
D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D006548:Hernia, Diaphragmatic / Q000097:blood*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012177:Retinol-Binding Proteins / Q000032:analysis; D014801:Vitamin A / Q000097:blood*
D012177:Retinol-Binding Proteins; D014801:Vitamin A