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.
Written by:
McNamara ER, Austin S, Case L, Wiener JS, Peterson AC, Kishnani PS. Are you the author?
Department of Urology, Boston Children's Hospital, 300 Longwood Avenue Hunnewell 3, Boston, MA, 02115, USA.
Reference: JIMD Rep. 2015 Jan 23. Epub ahead of print.
doi: 10.1007/8904_2014_381
PubMed Abstract
PMID: 25614307