Urologic Presentations and Management Options in Pediatric Mitochondrial Disease.

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OBJECTIVE: To review the evaluation and management of urologic pathology related to mitochondiral diseases (MD) in childhood.

METHODS: A retrospective review was performed of patients with MD from 1/1/2000 - 10/8/2020 who were referred for urologic evaluation at a single pediatric hospital. Clinical and demographic information was reviewed including symptomatology, urodynamic evaluation, and medical/surgical management.

RESULTS: 15 patients were identified for inclusion. Median age of presentation was 5 years and median follow up was 4 years. Patients presented with numerous urologic concerns including urinary retention/incomplete emptying, incontinence, and recurrent urinary tract infection. Urodynamics demonstrated elevated median bladder capacity at 172% of expected as calculated by age. Detrusor sphincter dyssynergia (DSD) was present in 6 (50%). Progression to surgical intervention occurred in 67% at a median time of 3.5 years after initial referral. This included suprapubic tube (SPT) placement and sacral neuromodulation (SNM).

CONCLUSION: Patients in this study were found to have a spectrum of lower urinary tract dysfunction (LUTD) with elevated bladder capacity being common. No singular urodynamic feature prevailed although DSD was found in 50%. Progression of symptoms over time was also common. Most patients (67%) did go on to surgical intervention including SPT and SNM. Clinicians should be aware of the possibility of LUTD in children with MD and they should be promptly referred to pediatric urology when LUTD is suspected.




Medicine and Health Sciences | Pediatrics




Department of Pediatrics

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