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JIMD Rep. 2014;17:53-61. doi: 10.1007/8904_2014_334. Epub 2014 Aug 26.

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey.

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1
Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131, Mainz, Germany.

Abstract

OBJECTIVE:

To determine the frequency and impact of gastrointestinal symptoms, and bowel and urinary incontinence, as this is currently unknown in adults with Pompe disease.

METHODS:

Adult German Pompe patients and age- and gender-matched controls were asked about symptoms in the upper and lower intestinal tract as well as urinary incontinence using the Gastrointestinal Symptoms Questionnaire and the International Consultation on Incontinence Questionnaires for Bowel Symptoms and Urinary Incontinence.

RESULTS:

The overall response rate was 78%; 57 patients and 57 controls participated. The mean age of the patients was 48.3 years ±14.7 (28 female, 29 male). 84% of patients were receiving enzyme replacement therapy. Stool urgency, diarrhoea, and urinary urge incontinence were reported significantly more frequently in patients compared to the age- and gender-matched controls (55%, 56%, 33% vs. 20%, 18%, 7%). 20% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls.

CONCLUSIONS:

Compared to age- and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency in adults with Pompe disease and have a major impact on daily life.

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