Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study

• Published in: Neurourology and urodynamics Vol. 41; no. 5; pp. 1177 - 1184
• Main Authors: Chen, Yu‐Kuang, Teng, Chao‐Ting, Yang, Chia‐Feng, Niu, Dau‐Ming, Huang, William J., Fan, Yu‐Hua
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01-06-2022
• Subjects: Children; Cross-sectional studies; dysfunctional voiding; Glycogen; glycogen storage disease; lower urinary tract symptoms; Lysosomal storage diseases; Patients; Pediatrics; pediatrics postvoid residual urine; Pompe disease; Urinary incontinence; Urinary tract; uroflowmetry; Urogenital system; Pompe disease; glycogen storage disease; uroflowmetry; lower urinary tract symptoms; dysfunctional voiding; pediatrics postvoid residual urine
• ISSN: 0733-2467; 1520-6777
• DOI: 10.1002/nau.24950

Aim
To evaluate lower urinary tract symptoms (LUTS) in children with infantile‐onset Pompe disease (IOPD) who received early treatment.
Methods
Pompe disease (PD), or glycogen storage disease II is a rare autosomal recessive lysosomal storage disease that affects multiple organ systems. To our knowledge, only one study has focused on the relationship between LUTS and incontinence in children with PD. This cross‐sectional study was conducted from August 2019 through March 2021 and children with IOPD, who had received early and regular enzyme replacement therapy, were enrolled. Participants or their parents completed the Dysfunctional Voiding Scoring System (DVSS) questionnaire. All children underwent uroflowmetry and postvoid residual urine measurements. Fourteen children (age, 4–9 years) with IOPD were enrolled.
Results
Ten patients (71.4%) had abnormal uroflow curves. In addition, results of the DVSS revealed that approximately half (42.9%) of our IOPD patients had voiding dysfunction, with urinary incontinence as the most common symptom (64.3%, 9/14). No significant correlations were found between LUTS and uroflow curves in children with IOPD.
Conclusions
The frequency of LUTS and lower urinary tract dysfunction noted on uroflowmetry should encourage pediatricians to actively identify IOPD patients with LUTS, regardless of the timing and frequency of their treatments, and refer them to a urologist for further evaluation and appropriate treatment.