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Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

Research Report
First Online:
Part of the JIMD Reports book series (JIMD, volume 20)

Abstract

Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in late-onset Pompe disease (LOPD)

Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed.

Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18–72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5–88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of post-void dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p = 0.005 and p = 0.04, respectively)

Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

Keywords

Urinary Incontinence Fecal Incontinence Lower Urinary Tract Symptom Enzyme Replacement Therapy Urinary Symptom 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of UrologyBoston Children’s HospitalBostonUSA
  2. 2.Department of Pediatrics, Division of Medical GeneticsDuke University Medical CenterDurhamUSA
  3. 3.Department of Community and Family Medicine, Division of Physical TherapyDuke University Medical CenterDurhamUSA
  4. 4.Division of Urologic SurgeryDuke University Medical CenterDurhamUSA

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