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Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease
Divya Ajay1, Erin R McNamara2, Stephanie Austin3
1Division of Urologic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC, USA.
Insights
Lower urinary tract symptoms (LUTS) and incontinence are common in children with Pompe disease (PD), especially infantile types. Management of constipation and enzyme replacement therapy (ERT) may improve bladder control symptoms.
Area of Science:
- Pediatric rare diseases
- Lysosomal storage disorders
- Urology
Background:
- Pompe disease (PD) is a rare genetic disorder affecting lysosomal glycogen storage.
- Enzyme replacement therapy (ERT) has improved survival, shifting focus to quality of life.
- Lower urinary tract symptoms (LUTS) and incontinence in pediatric PD are not well-documented.
Purpose of the Study:
- To investigate the prevalence and characteristics of LUTS and incontinence in children with PD.
- To explore potential correlations between urinary symptoms, PD subtypes, and treatment.
Main Methods:
- A cohort of 16 children (aged 4-14) with PD completed validated bladder control symptom scores (BCSS) and questionnaires.
- Data collected included urinary tract infections (UTIs), giggle incontinence, and stress incontinence.
- Descriptive statistics analyzed symptom variations by gender, age, and PD subtype.
Main Results:
- LUTS and incontinence were prevalent, with higher symptom burden in classic infantile PD.
- Daytime incontinence, constipation, and giggle/stress incontinence were reported.
- Longitudinal data showed stable, improved, or worsened BCSS, linked to bowel function and ERT dose.
Conclusions:
- LUTS and incontinence are common in pediatric PD, particularly infantile forms.
- Bowel function management and increased ERT dosage may positively impact bladder control.
- Further research is warranted to understand and manage these symptoms in PD patients.
Background:
Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD.
Methods:
Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regarding urinary tract infections (UTIs), giggle, and stress incontinence. Descriptive statistics were used to discriminate urinary symptoms between gender, age, and different types of PD.
Results:
Sixteen of 23 children (aged 4-14 years) seen in our clinic participated. Seven were girls; ten had classic infantile PD, two atypical infantile PD, and four childhood presentation late-onset PD (LOPD). When stratified by PD subtype, median BCSS was worst for the classic PD subtype followed by atypical PD and LOPD. Daytime urinary incontinence accompanied by constipation was noted in six. Eight reported urinary incontinence with laughing: giggle incontinence in six and stress incontinence in two. Four girls reported a history of UTI. Longitudinal follow-up in 11 patients showed stable BCSS in six, improvement in three, and worsening in two. Worsening corresponded with changes in bowel function and improvement with increase in ERT dose or treatment of constipation.
Conclusions:
LUTS and incontinence are common in children with PD with greater symptoms noted with infantile-type PD. Improved bowel function and increase in ERT dose may lead to improvements in BCSS.
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