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.
Competing interests: None declared
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Anger JT, Saigal CS, Stothers L, Thom DH, Rodriguez LV, Litwin MS, Urologic P, Diseases of America (2006) The prevalence of urinary incontinence among community dwelling men: results from the national health and nutrition examination survey. J Urol 176(5):2103–2108, discussion 2108
Basra R, Kelleher C (2007) Disease burden of overactive bladder: quality-of-life data assessed using ICI-recommended instruments. Pharmacoeconomics 25(2):129–142
Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT (1998) Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 7(1):53–62
Cameron AP, Heidelbaugh JJ, Jimbo M (2013) Diagnosis and office-based treatment of urinary incontinence in adults. Part one: diagnosis and testing. Ther Adv Urol 5(4):181–187
Fidzianska A, Lugowska A, Tylki-Szymanska A (2011) Late form of Pompe disease with glycogen storage in peripheral nerves axons. J Neurol Sci 301(1–2):59–62
Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT (2004) Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 63(9):1688–1692
Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT (2005) Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 64(12):2139–2141
Halland M, Koloski NA, Jones M, Byles J, Chiarelli P, Forder P, Talley NJ (2013) Prevalence correlates and impact of fecal incontinence among older women. Dis Colon Rectum 56(9):1080–1086
Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS (2012) Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab 106(4):462–469
Howard F, Steggall M (2010) Urinary incontinence in women: quality of life and help-seeking. Br J Nurs 19(12):742, 744, 746, 748–749
Kobayashi H, Shimada Y, Ikegami M, Kawai T, Sakurai K, Urashima T, Ijima M, Fujiwara M, Kaneshiro E, Ohashi T, Eto Y, Ishigaki K, Osawa M, Kyosen SO, Ida H (2010) Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab 100(1):14–19
Laboratories A. T. S. C. o. P. S. f. C. P. F (2002) ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 166(1):111–117
Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P (1998) Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 79(1):69–72
Maserejian NN, Chen S, Chiu GR, Araujo AN, Kupelian V, Hall SA, McKinlay JB (2013a) Treatment status and progression or regression of lower urinary tract symptoms among adults in a general population sample. J Urol 191(1):107–113
Maserejian NN, Chen S, Chiu GR, Wager CG, Kupelian V, Araujo AB, McKinlay JB (2013b) Incidence of lower urinary tract symptoms in a population-based study of men and women. Urology 82(3):560–564
Matthews CA, Whitehead WE, Townsend MK, Grodstein F (2013) Risk factors for urinary, fecal, or dual incontinence in the nurses’ health study. Obstet Gynecol 122(3):539–545
Minassian VA, Drutz HP, Al-Badr A (2003) Urinary incontinence as a worldwide problem. Int J Gynaecol Obstet 82(3):327–338
Naughton MJ, Donovan J, Badia X, Corcos J, Gotoh M, Kelleher C, Lukacs B, Shaw C (2004) Symptom severity and QOL scales for urinary incontinence. Gastroenterology 126(1 Suppl 1):S114–S123
Personius KE, Pandya S, King WM, Tawil R, McDermott MP (1994) Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther 74(3):253–263
Remiche G, Herbaut AG, Ronchi D, Lamperti C, Magri F, Moggio M, Bresolin N, Comi GP (2012) Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 68(2):75–78
van der Walt JD, Swash M, Leake J, Cox EL (1987) The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle Nerve 10(3):272–281
Wallner LP, Porten S, Meenan RT, O’Keefe Rosetti MC, Calhoun EA, Sarma AV, Clemens JQ (2009) Prevalence and severity of undiagnosed urinary incontinence in women. Am J Med 122(11):1037–1042
Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet P (2008) Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 38(4):1236–1245
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Carla E. Hollak, M.D.
Appendices
Synopsis
This study highlights an underdiagnosed problem in a large cohort of LOPD patients and describes the prevalence of urinary symptoms and urinary and fecal incontinence.
Compliance with Ethics Guidelines
Funding source: No external funding was secured for this study.
Conflict of Interest
-
Dr. McNamara reports no disclosures.
-
Stephanie Austin reports no disclosures.
-
Lauren Case has received honoraria from Genzyme Corporation of Sanofi; has participated in research supported by Genzyme Corporation of Sanofi, PTC Therapeutics, the Leal Foundation, Families of SMA, Enobia Pharma Inc./Alexion, the Robertson Foundation, and GlaxoSmithKline; has been awarded grant support from the National Skeletal Muscle Research Center; and is a member of the Pompe Registry Board of Advisors for Genzyme Corporation of Sanofi.
-
Dr. Wiener has served as a consultant to Eli Lilly and Company.
-
Dr. Peterson has no disclosures.
-
Dr. Kishnani has received research/grant support and honoraria from Genzyme Corporation and is a member of the Pompe and Gaucher Disease Registry Advisory Board for Genzyme Corporation.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
Authorship: All authors have given final approval of the version to be published.
Erin R. McNamara – Dr. McNamara contributed to collection, analysis, or interpretation of the data as well as drafting the manuscript. This author completed all statistical analysis.
Stephanie Austin – Contributed to collection and interpretation of the data as well as revising the manuscript.
Laura Case – Contributed to interpretation of the data as well as revising the manuscript.
John S. Wiener – Contributed to design and conceptualization of the study and interpretation of the data as well as revising the manuscript.
Andrew C. Peterson – Contributed to design and conceptualization of the study and interpretation of the data as well as revising the manuscript.
Priya S. Kishnani – Contributed to design and conceptualization of the study and interpretation of the data as well as revising the manuscript.
Rights and permissions
Copyright information
© 2014 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
McNamara, E.R., Austin, S., Case, L., Wiener, J.S., Peterson, A.C., Kishnani, P.S. (2014). Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 20. JIMD Reports, vol 20. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_381
Download citation
DOI: https://doi.org/10.1007/8904_2014_381
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-46699-5
Online ISBN: 978-3-662-46700-8
eBook Packages: MedicineMedicine (R0)