title: Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.
abstract: 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.
authors.affiliation: Division of Urologic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC, USA.
authors.forename: Divya
authors.initials: D
authors.lastname: Ajay
authors.affiliation: Department of Urology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Erin R
authors.initials: ER
authors.lastname: McNamara
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Austin
authors.affiliation: Division of Urologic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC, USA.
authors.forename: John S
authors.initials: JS
authors.lastname: Wiener
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. priya.kishnani@dm.duke.edu.
authors.forename: Priya
authors.initials: P
authors.lastname: Kishnani
keywords: Incontinence; Infantile-type Pompe disease; Lower urinary tract symptoms; Urinary tract infections