Lower urinary tract dysfunction in adult patients with mitochondrial disease.
bladder dysfunction
lower urinary tract symptoms
mitochondrial disease
urodynamics
Journal
Neurourology and urodynamics
ISSN: 1520-6777
Titre abrégé: Neurourol Urodyn
Pays: United States
ID NLM: 8303326
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
20
05
2020
accepted:
29
07
2020
pubmed:
25
9
2020
medline:
3
3
2021
entrez:
24
9
2020
Statut:
ppublish
Résumé
Mitochondrial diseases present with a spectrum of clinical features, usually with multiorgan involvement and are often characterized by a loss of smooth muscle function. Hence, we hypothesized that mitochondrial dysfunction may contribute to lower urinary tract (LUT) dysfunction. We performed a prospective cohort study at a single, quaternary, mitochondrial disease referral center, enrolling consecutive adult patients with genetically confirmed mitochondrial disease. Data regarding baseline characteristics and disease burden were gathered. LUT dysfunction was assessed using the International Consultation on Incontinence Modular Questionnaire-Lower Urinary Tract Symptoms (ICIQ-LUTS) questionnaire, bladder voiding efficiency (BVE), and bladder diaries. Patients with one or more features of LUT dysfunction were offered urodynamic testing. A total of 109 patients were included. Twenty-six percent of patients manifested at least one feature of LUT dysfunction, which was objectively confirmed in all 14 patients who consented to urodynamic investigation. Disease burden, defined by the Newcastle Mitochondrial Disease Adult Scale (NMDAS), demonstrated a linear relationship with ICIQ-LUTS severity (P = .01), with a statistically significant relationship between NMDAS-gastrointestinal scores and LUTS scores (P < .001). Limitations include mutational heterogeneity across the patient cohort. This is the largest study exploring LUT in patients with mitochondrial disease and supports previous smaller studies suggesting LUT dysfunction is underrecognized in patients with mitochondrial disease and impacts considerably on their quality of life. We propose a clinical guideline for identifying mitochondrial disease patients at risk of LUT dysfunction.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2253-2263Subventions
Organisme : Department of Health
ID : NIHR-HCS-D12-03-04
Pays : United Kingdom
Organisme : Medical Research Council
ID : M501700
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 074454/Z/04/Z
Pays : United Kingdom
Informations de copyright
© 2020 Wiley Periodicals LLC.
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