Urologic Presentations and Management Options in Pediatric Mitochondrial Disease
Victor Kucherov1, Hong Truong1, Christopher Raab2
1Department of Urology, Thomas Jefferson University Hospital, Philadelphia, PA.
Urology
|January 12, 2022
Summary
Children with mitochondrial diseases (MD) often experience lower urinary tract dysfunction (LUTD), including urinary retention and incontinence. Many require surgical intervention like suprapubic tube (SPT) placement or sacral neuromodulation (SNM) for management.
Area of Science:
- Pediatric Urology
- Mitochondrial Diseases
- Urologic Pathology
Background:
- Mitochondrial diseases (MD) can manifest with diverse clinical symptoms, including urologic complications.
- Lower urinary tract dysfunction (LUTD) is an underrecognized manifestation in pediatric patients with MD.
Purpose of the Study:
- To review the evaluation and management of urologic pathology in children with mitochondrial diseases (MD).
- To identify common urologic concerns and treatment outcomes in this patient population.
Main Methods:
- Retrospective review of 15 pediatric patients with MD referred for urologic evaluation between 2000 and 2020.
- Analysis of clinical data, symptomatology, urodynamic findings, and medical/surgical management.
Main Results:
- 15 patients with a median age of 5 years presented with urologic issues like urinary retention, incontinence, and recurrent UTIs.
- Urodynamics revealed elevated bladder capacity (172% of expected) and detrusor sphincter dyssynergia (DSD) in 50% of patients.
- 67% of patients underwent surgical intervention, including suprapubic tube (SPT) placement and sacral neuromodulation (SNM).
Conclusions:
- Children with MD exhibit a spectrum of LUTD, commonly with increased bladder capacity.
- Detrusor sphincter dyssynergia (DSD) is prevalent, and symptoms often progress, necessitating intervention.
- Prompt urologic referral is crucial for suspected LUTD in children with MD.
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