Analysis of renal anomalies in VACTERL association

Abstract

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. 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 3 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. 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). 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 US shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health.

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth‐defect registries

“…Regarding extra‐renal anomalies, we observed in our series that URA was part of a well‐identified syndrome in 30% of cases, of which VACTERL association and Fraser syndromes were the more frequent. These associations are also widely reported in adult series (Dursun et al, ; Akl, ; Barisic et al, ; Cunningham et al, ; Westland et al, ).…”

Anorectal malformation with rectobladder neck fistula: A distinct and challenging malformation

“…All patients with anorectal malformations should undergo early kidney ultrasound to evaluate renal status and identify obstruction. When there is evidence of a dilated upper urinary tract or renal scarring, a voiding cystourethrogram is recommended to delineate the anatomy of the urinary system and asses the presence of VUR [7,8].…”

Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up

“… 6 Renal anomalies are unilateral renal agenesis, dysplastic–multicystic kidneys and duplication of collecting system. 7 The preauricular tags seen in our case is a rare manifestation in CRS or VACTERL association with only a few reported cases. 8 Popliteal pterigeum is a well-documented abnormality of the CRS, that can be detected on antenatal scans.…”