Summary
Background
Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes
of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome,
but most of these abnormalities occur as isolated and sporadic forms. The etiology
of human CAKUT is unknown in the majority of cases. This case–control study aimed
to investigate the association between maternal characteristics and the occurrence
of CAKUT and specific CAKUT phenotypes.
Methods
In this case–control study, 29,653 newborns were evaluated consecutively in a tertiary
neonatal unit using the Latin American Collaborative Study of Congenital Malformations
(ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases
by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases
were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic
junction obstruction, vesicoureteral reflux, primary megaureter and others (n = 239),
lower urinary tract obstruction (LUTO) (n = 79), cystic diseases (n = 59) and agenesis/hypodysplasia
(n = 28). Multivariable logistic regression analyses were used to calculate crude
and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations
between the maternal risk factors and the presence of CAKUT.
Results
The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data
records allowed the analysis of 405 cases and 1208 controls. After adjustment by the
binary regression logistic, three covariates remained associated as risk factors for
the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4–20.4),
family history of CAKUT (OR, 6.4, 95%CI, 1.9–21.3), and maternal chronic hypertension
(OR, 14.69, 95%CI, 3.2–67.5) (Figure). These risk factors persisted consistently across
the various CAKUT phenotypes with minor variations. Consanguinity was the only factor
consistently associated with almost all CAKUT phenotypes. Maternal hypertension was
associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence
of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive
mothers (0.2%).
Conclusion

Graphical AbstractAssociation between maternal risk factors and CAKUT in the newborn. For better visualization,
the x-axis was truncated at the maximum odds ratio value of 18. ∗P = 0.003 ∗∗P < 0.001
∗∗∗P > 0.05
Keywords
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Article info
Publication history
Published online: December 07, 2022
Accepted:
November 30,
2022
Received in revised form:
October 17,
2022
Received:
August 8,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.