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Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease

  • Research Report
  • Chapter
  • First Online:
JIMD Reports, Volume 28

Part of the book series: JIMD Reports ((JIMD,volume 28))

Abstract

Background: Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD.

Methods: Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regarding urinary tract infections (UTIs), giggle, and stress incontinence. Descriptive statistics were used to discriminate urinary symptoms between gender, age, and different types of PD.

Results: Sixteen of 23 children (aged 4–14 years) seen in our clinic participated. Seven were girls; ten had classic infantile PD, two atypical infantile PD, and four childhood presentation late-onset PD (LOPD). When stratified by PD subtype, median BCSS was worst for the classic PD subtype followed by atypical PD and LOPD. Daytime urinary incontinence accompanied by constipation was noted in six. Eight reported urinary incontinence with laughing: giggle incontinence in six and stress incontinence in two. Four girls reported a history of UTI. Longitudinal follow-up in 11 patients showed stable BCSS in six, improvement in three, and worsening in two. Worsening corresponded with changes in bowel function and improvement with increase in ERT dose or treatment of constipation.

Conclusions: LUTS and incontinence are common in children with PD with greater symptoms noted with infantile-type PD. Improved bowel function and increase in ERT dose may lead to improvements in BCSS.

Competing interests: None declared

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Abbreviations

BCSS:

Bladder control symptom score

ERT:

Enzyme replacement therapy

LOPD:

Late-onset Pompe disease

LUTS:

Lower urinary tract symptoms

PD:

Pompe disease

UTIs:

Urinary tract infections

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Author information

Authors and Affiliations

  1. Division of Urologic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC, USA

    Divya Ajay & John S. Wiener

  2. Department of Urology, Boston Children’s Hospital, Boston, MA, USA

    Erin R. McNamara

  3. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA

    Stephanie Austin & Priya Kishnani

Authors
  1. Divya Ajay
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  2. Erin R. McNamara
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  3. Stephanie Austin
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  4. John S. Wiener
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  5. Priya Kishnani
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Corresponding author

Correspondence to Priya Kishnani .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Gregory M. Pastores, MD

Take-Home Message

Lower urinary tract symptoms, urinary incontinence, and constipation were found to be relatively common in children with Pompe disease and were worse in children with classic and nonclassic infantile Pompe disease that those with LOPD.

Author Contributions

  • Dr. Divya Ajay – (a) conception and design, or analysis and interpretation of data, and (b) drafting the article or revising it critically for important intellectual content

  • Dr. Erin McNamara – (b) drafting the article or revising it critically for important intellectual content

  • Ms. Stephanie Austin – (b) drafting the article or revising it critically for important intellectual content

  • Dr. John Wiener – (a) conception and design, or analysis and interpretation of data, and (b) drafting the article or revising it critically for important intellectual content

  • Dr. Priya Kishnani – (a) conception and design, or analysis and interpretation of data, and (b) drafting the article or revising it critically for important intellectual content

Compliance with Ethics Guidelines

Conflict of Interest

  • Dr. Divya Ajay reports no disclosures.

  • Dr. Erin McNamara reports no disclosures; she is supported by grant number T32 HS000063 from the Agency for Healthcare Research and Quality (AHRQ).

  • Ms. Stephanie Austin reports no disclosures.

  • Dr. John Wiener reports no disclosures.

  • Dr. Priya 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. She has also received honoraria from Amicus Therapeutics.

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. Informed consent was obtained from all patients for being included in the study.

Funding sources: None

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Ajay, D., McNamara, E.R., Austin, S., Wiener, J.S., Kishnani, P. (2015). Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 28. JIMD Reports, vol 28. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_492

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  • DOI: https://doi.org/10.1007/8904_2015_492

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  • Print ISBN: 978-3-662-52846-4

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