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2014 ; 100
(10
): 801-5
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Analysis of renal anomalies in VACTERL association
#MMPMID25196458
Cunningham BK
; Khromykh A
; Martinez AF
; Carney T
; Hadley DW
; Solomon BD
Birth Defects Res A Clin Mol Teratol
2014[Oct]; 100
(10
): 801-5
PMID25196458
show ga
BACKGROUND: VACTERL association refers to a combination of congenital anomalies
that can include: vertebral anomalies, anal atresia, cardiac malformations,
tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically
structural renal anomalies), and limb anomalies. METHODS: We conducted a
description of a case series to characterize renal findings in a cohort of
patients with VACTERL association. Out of the overall cohort, 48 patients (with
at least three component features of VACTERL and who had abdominal ultrasound
performed) met criteria for analysis. Four other patients were additionally
analyzed separately, with the hypothesis that subtle renal system anomalies may
occur in patients who would not otherwise meet criteria for VACTERL association.
RESULTS: Thirty-three (69%) of the 48 patients had a clinical manifestation
affecting the renal system. The most common renal manifestation (RM) was
vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%),
followed by unilateral renal agenesis (24%), and then dysplastic/multicystic
kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25
patients with a structural RM had an associated anorectal malformation.
Individuals with either isolated lower anatomic anomalies, or both upper and
lower anatomic anomalies were not statistically more likely to have a structural
renal defect than those with isolated upper anatomic anomalies (p = 0.22, p =
0.284, respectively). CONCLUSION: Given the high prevalence of isolated VUR in
our cohort, we recommend a screening VCUG or other imaging modality be obtained
to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or
renal scarring, as well as ongoing evaluation of renal health.
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