Lower urinary tract symptoms are prevalent in children with infantile-onset Pompe disease, even if they received enzyme replacement therapy and especially if they have overactive bladder symptoms, a new study published in Neurourology Urodynamics found.

Previous research has shown that Pompe disease can affect the smooth muscles of the bladder but to date, only 1 study investigated the possible link between lower urinary tract symptoms and incontinence in children with Pompe disease.

Here, a team of researchers from Taiwan led by Yu-Hua Fan, MD, further investigated lower urinary tract symptoms in patients with infantile-onset Pompe disease. They enrolled 14 children, aged 4 to 9 years with infantile-onset Pompe disease who received early and regular enzyme replacement therapy.

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They found that 10 of the children (71.4%) had abnormal uroflow curves and 6 of them had voiding dysfunction. Urinary incontinence was the most common symptom affecting 9 (64.3%) of the patients. They also found no significant correlations between lower urinary tract symptoms and uroflow curves in the children.

Read more about the symptoms of Pompe disease

The authors concluded that the frequency of lower urinary tract symptoms and dysfunction noted on uroflowmetry should encourage pediatricians to actively identify infantile-onset Pompe disease with these symptoms “regardless of the timing and frequency of their treatments.” This can ensure these patients are referred to a urologist for further evaluation and receive adequate treatment in a timely manner.

Pompe disease is a rare autosomal recessive lysosomal storage disorder affecting approximately 1 in 40,000 people. The clinical spectrum varies based on the age of onset, progression rate, and severity of the symptoms. Enzyme replacement therapy is currently the only approved treatment that can improve slow the progression of the disease and improve the survival of these patients.


Chen YK, Teng CT, Yang CF, Niu DM, Huang WJ, Fan YH. Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: a single-centre cross-sectional study. Neurourol Urodyn. Published online April 28, 2022. doi:10.1002/nau.24950