Urological outcomes in adult females born with anorectal malformation or Hirschsprung disease

Abstract

Introduction
Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females born with ARM or HD to a reference population.

Methods
This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed surveys between November 2021 and August 2022. Female patients between the ages of 18 and 80 years were included. Lower Urinary Tract Symptom Questionnaires were administered through REDCap and the responses were compared to a reference population using Chi-squared or Fisher’s exact tests.

Results
Sixty-six born female patients answered the questionnaires, two of them identified as non-binary. The response rate was 76%. Median age was 31.6 years. The majority were born with cloaca (56.3%), followed by other type of ARMs (28.1%), complex malformation (9.4%), and HD (6.3%). A history of bladder reconstruction was present for 26.6%. Catheterization through a channel or native urethra was present in 18.8%. Two had ureterostomies and were excluded from the analysis. Seven had chronic kidney disease or end-stage renal disease, three with a history of kidney transplantation.
Patients with cloaca had significantly higher rates of urinary incontinence, urinary tract infection, and social problems due to impaired urological functioning, when compared to an age-matched reference population (Table 3).

Conclusion
This study emphasizes the need for a multi-disciplinary team that includes urology and nephrology following patients with ARM long term, especially within the subgroup of cloaca.

Level of Evidence
III.

Full text

Vol.:(0123456789)
Pediatric Surgery International (2024) 40:179
https://doi.org/10.1007/s00383-024-05766-1
ORIGINAL ARTICLE
Urological outcomes inadult females born withanorectal
malformation orHirschsprung disease
LeaA.Wehrli1· KellyT.Harris1· DanT.Wood1· DuncanT.Wilcox1· EmilyH.Cooper2· JaredM.Rieck2·
ElishaMcGuire1· JillKetzer1· LuisDeLaTorre1· AlbertoPeña1· AndreaBischo1
Accepted: 29 June 2024 / Published online: 6 July 2024
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024
Abstract
Introduction Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic
function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females
born with ARM or HD to a reference population.
Methods This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed sur-
veys between November 2021 and August 2022. Female patients between the ages of 18 and 80years were included. Lower
Urinary Tract Symptom Questionnaires were administered through REDCap and the responses were compared to a reference
population using Chi-squared or Fisher’s exact tests.
Results Sixty-six born female patients answered the questionnaires, two of them identified as non-binary. The response rate
was 76%. Median age was 31.6years. The majority were born with cloaca (56.3%), followed by other type of ARMs (28.1%),
complex malformation (9.4%), and HD (6.3%). A history of bladder reconstruction was present for 26.6%. Catheterization
through a channel or native urethra was present in 18.8%. Two had ureterostomies and were excluded from the analysis.
Seven had chronic kidney disease or end-stage renal disease, three with a history of kidney transplantation.
Patients with cloaca had significantly higher rates of urinary incontinence, urinary tract infection, and social problems due
to impaired urological functioning, when compared to an age-matched reference population (Table3).
Conclusion This study emphasizes the need for a multi-disciplinary team that includes urology and nephrology following
patients with ARM long term, especially within the subgroup of cloaca.
Level of Evidence III.
Keywords Anorectal malformation· Cloaca· Hirschsprung disease· Urinary function· Urological outcome· Urinary
incontinence
Abbreviations
ARM Anorectal malformation
HD Hirschsprung disease
UI Urinary incontinence
CKD Chronic kidney disease
ESRD End-stage renal disease
UTI Urinary tract infection
UDS Urodynamic study
PSARP Posterior sagittal anorectoplasty
Introduction
The diagnosis of an anorectal malformation (ARM) is asso-
ciated with urogenital anomalies with a reported prevalence
ranging from 18.4—85% [1–4], with a higher reported
prevalence depending on type and severity of the ARM. In
patients with Hirschsprung disease, the reported incidence
ranges from 5.1 to 25% [5–8] Urinary and renal outcomes of
adult ARM and HD patients are currently sparse with recent
publications emphasizing the importance of transitional care
with particular interest in urogenital health [1, 9, 10]. In
addition, standardization of screening methods in ARM as
* Andrea Bischoff
andrea.bischoff@childrenscolorado.org
1 International Center forColorectal andUrogenital Care,
Children’s Hospital Colorado, Aurora, USA
2 Research inOutcomes forChildren’s Surgery, Center
forChildren’s Surgery, Children’s Hospital Colorado,
University ofColorado School ofMedicine, Aurora, USA
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