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

Abstract

Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in lateonset 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 postvoid 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 ¼ 0.005 and p ¼ 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.

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease

“…The prevalence of voiding dysfunction was higher in girls (57%) when compared to boys (33%). This finding mirrors the findings of LUTS in adults with LOPD in which 61% of women and 39% of men reported urinary symptoms (McNamara et al 2015). In our pediatric cohort, nocturnal enuresis was noted in 42% of female patients and fecal incontinence in 43%, which were higher than their male counterparts (0% nocturnal enuresis and 22% fecal incontinence).…”

“…In our pediatric cohort, nocturnal enuresis was noted in 42% of female patients and fecal incontinence in 43%, which were higher than their male counterparts (0% nocturnal enuresis and 22% fecal incontinence). The rate of fecal incontinence in girls was similar to that noted in adult (45%) (McNamara et al 2015). While healthy girls typically have more LUTS than boys, enuresis is typically more common in healthy boys.…”

“…In comparison, 50% of our children with infantile PD (classic and atypical) experienced some degree of daytime urinary incontinence. While robust epidemiological data is unavailable in this patient population, we previously reported that the prevalence of urinary incontinence in our adult LOPD patients is at 54% (McNamara et al 2015). We found no urinary incontinence in children with LOPD.…”

“…Karabul et al found urinary and bowel incontinence occurring at a higher frequency in adults with Pompe disease in comparison to age-and gender-matched controls (Karabul et al 2014). Furthermore, our recently reported case series of 35 adults with PD outlined phenotypes of micturition disorders in LOPD (McNamara et al 2015). We have previously described low anal sphincter tone and fecal incontinence in infantile-onset PD (Tan et al 2013).…”

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

“…This finding could provide a pathophysiologic mechanism for small and large intestinal dysmotility and bowel control in this cohort. Bowel dysfunction and urinary incontinence have been reported in adults with LOPD, likely related to decreased anal sphincter pressure and fatty infiltration of pelvic floor musculature (Remiche et al 2012;McNamara et al 2015), along with glycogen accumulation in smooth muscle of the bladder (Hobson-Webb et al 2012), and within neurons of the submucosal (Meissner's) and myenteric (Auerbach's) plexuses of the small and large intestines (Bernstein et al 2010). We have observed urinary and bowel incontinence in several long-term survivors with infantile Pompe disease, an area that would benefit from long-term follow-up studies (Tan et al 2013).…”