A Rare CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) Constellation: An Umbrella or Field Defect ?

There are separate poster presentation times for odd and even posters.
Odd poster #s – first hour
Even poster #s – second hour

Abstract Body : Introduction and Objective –
CAKUT (congenital anomalies of the Kidney and Urinary tract) are birth defects involving the genitourinary system. “Congenital” implies occurrence during embryonic/fetal development. These defects can involve different parts of the genitourinary system and other organ systems. ‘Fields’ are those units or parts where the complex structures which are species specific develop in a spatial, well-coordinated, and synchronous manner as parts of an embryo. Thus, malformations that occur in a particular region are often termed as FIELD DEFECT. Crossed fused ectopic renal anomalies are uncommon and are associated with other genitourinary malformations. To our knowledge, a constellation of anomalies including duplication of glans, hypospadias, ectopic ureter with vesicoureteric reflux, and low ano rectal malformation has not been reported in the literature. The aim of this study is to highlight the clinical findings in this case and their embryological connotations.
Materials and Methods -
A 3-year-old male child was operated on for a low anorectal malformation reported with genital anomalies and recurrent urinary infections. The child was first born of non-consanguineous parents, the antenatal history was unremarkable. He was a full-term baby delivered by LSCS with a birth weight of 2.8 kg. He had a hooded prepuce, distal penile hypospadias, sagittal duplicated glans, bilateral descended testis, minimal chordee, bifid scrotum, and mild penoscrotal transposition. Investigations (Ultrasound, voiding cystourethrogram, cystoscopy, isotope scans, Magnetic resonance urography) confirmed a left to right crossed fused ectopia, Left grade 5 vesicoureteral reflux, normal right kidney, and minimally scarred left kidney. On cystoscopy, the left ectopic ureteric orifice was stadium shaped and opened just below the bladder neck. The right ureteric opening was normal and the right hemi-trigone was relatively better developed than the left. The child has undergone staged management with anoplasty, and left ureteric reimplantation and awaits a urethroplasty.
Result and Conclusion
Multiple congenital anomalies across spatially related systems denote a field defect. The illustrated array of anomalies seems to arise from a field defect involving the genital tubercle, genital folds, mesonephric duct, metanephric diverticulum, and renal blastema. A meticulous search uncovers the anomalies and facilitates individualized management decisions to preserve the structure and function of affected organs and organ systems.
Significance/Implication - Learning points
• The constellation of crossed fused ectopia, ectopic ureter, duplication of glans, hypospadias, penoscrotal transposition, chordee, grade 5 VUR, and low ARM is an uncommon entity.
• Clinicians should be very careful while approaching a case of multiple anomalies as a field defect.
• A thorough history, physical examination, and related investigations should be undertaken to solve the diagnostic dilemma and plan optimal interventional.