Dataset Information

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

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.

SUBMITTER: Ajay D

PROVIDER: S-EPMC5059197 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Publications

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Ajay Divya D McNamara Erin R ER Austin Stephanie S Wiener John S JS Kishnani Priya P

JIMD reports 20151105

<h4>Background</h4>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.<h4>Methods</h4>Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regard ...[more]

PMID: 26537578

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Project description:BackgroundIn men aged above 50 yr, lower urinary tract symptoms (LUTS), benign prostate hyperplasia, and prostate cancer are common urological conditions. Current guidelines for general practitioners frequently recommend prostate-specific antigen (PSA) testing in patients with LUTS for the detection of prostate cancer.ObjectiveTo assess the performance of PSA, PSA density, and the Stockholm3 blood test for identification of prostate cancer among men with LUTS.Design setting and participantsIn this post hoc analysis of a population-based diagnostic trial (STHLM3, n = 58 588), 4588 men aged 50-69 yr, without previous prostate cancer, with International Prostate Symptom Score (IPSS) data, and having PSA ≥ 3 ng/mL were identified. Men with at least moderate LUTS, defined as an IPSS score of ≥8, were included. PSA density and Stockholm3 scores were calculated.InterventionParticipants underwent 10-12-core systematic prostate biopsies.Outcome measurements and statistical analysisThe primary outcome was significant prostate cancer (sPCa) defined as International Society of Urological Pathology (ISUP) grade ≥2. Logistic regression analysis adjusted for age and previous biopsy status was performed. The area under the receiver operating characteristic curve (AUC) was calculated, and decision curve analysis was performed.Results and limitationsOut of 4588 men, 1544 (34%) reported at least moderate LUTS. The median age was 64 yr, and 11% had undergone a previous prostate biopsy. The Stockholm3 test showed superior discrimination for sPCa to PSA density, which in turn showed superior discrimination to PSA (AUC 0.77 vs 0.70 vs 0.61, p < 0.02). Calibration of the Stockholm3 test was adequate. Performing biopsy only in men with PSA ≥5 ng/mL saved 64% of biopsies, but resulted in missing 52% of detectable sPCa. Recommending biopsy for men with PSA density ≥0.07 resulted in sparing 26% of biopsy procedures and delaying the diagnosis of 12% of sPCa cases, with a 6.1% risk of sPCa among unbiopsied men. Recommending men with Stockholm3 ≥ 0.11 for biopsy resulted in sparing 53% of biopsy procedures and delaying the diagnosis of 20% of sPCa cases, with a 5.1% risk of finding sPCa in unbiopsied men.ConclusionsPSA density and the Stockholm3 blood test were superior to PSA for the identification of prostate cancer among men with LUTS.Patient summaryIn this analysis of a large Swedish study, we find that the use of prostate-specific antigen (PSA) density or the Stockholm3 blood test instead of only PSA might improve the detection of prostate cancer among men with lower urinary tract symptoms.

Project description:Background:Urinary incontinence is a major concern for patients scheduled for radical prostatectomy. However, after prostatectomy lower urinary tract symptoms (LUTS) may improve and thus mitigate this concern. We assessed LUTS and its interference with the quality of life (QoL) using the short form of the international continence society male questionnaire (ICSMALESF-Q) in patients before and after robot-assisted radical prostatectomy (RARP). Furthermore, we aimed to identify risk factors for postoperative urinary incontinence. Methods:Data of all patients who underwent RARP from 2009 to 2014 were prospectively collected in our customized database. We identified 453 eligible patients for whom a preoperative and at least two postoperative datasets including ICSMALESF-Q were available. Results:Both the ICSMALESF-Q at 6 months (P<0.001) and the related QoL at 12 months (P<0.01) have significantly improved after RARP (P<0.001). Two years after RARP ICSMALESF-Q and thus LUTS have improved in 64%, remained unchanged in 18% and worsened in 18% of patients. The daily pad use was 0 in 79% and 0 or 1 pad in 95.6%, respectively. Increased patient age (P<0.05) was significantly associated with an increased average number of pads used per day (multiplicative effect: +2.1% pads for each year). Being in the D'Amico low-risk group reduced the average number of pads used by 22% (P<0.05, multiplicative effect 0.780). The prostate volume, planned nerve sparing, adjuvant or salvage radiotherapy, body mass index (BMI), or a history of transurethral resection of the prostate (TUR-P) before radical prostatectomy were not associated with the postoperative pad use or changes in LUTS. Conclusions:The ICSMALESF-Q and thus LUTS have significantly improved in a majority of patients after RARP and hence the associated QoL improved as well. Preoperative D'Amico low-risk group significantly reduced pad use after RARP, whereas increased age significantly increased postoperative pad use. These results will help providers counsel their patients more appropriately before prostatectomy by focusing not only on pad use and incontinence after RARP, but also on changes of the bothersomeness of LUTS and risk factors in general.

Dataset Information

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Background

Methods

Results

Conclusions

Publications

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Similar Datasets

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