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Difficulty With Voiding or Frequency

Bladder dysfunction or neurogenic bladder is noted in mitochondrial disease. This mirrors the gut dysmotility and constipation that occur commonly in this patient population (Zelnik, 1996; Axelrod, 2006). In both organs, smooth muscle weakness is presumed and autonomic innervation can be dysfunctional.

Patients manifest symptoms that include urinary retention and/or frequency. These symptoms can evolve and can become permanent, reflecting disease progression, or may show up transiently during periods of increased systemic stress as with intercurrent infections or profound fatigue. Disturbed bladder function can also occur in association with severe constipation (Garcia-Velasco, 2003). Resolution of the trigger process is often accompanied by a return to normal bladder function. Significant urinary retention can be associated with abdominal discomfort and perhaps acute bladder spasms. However, if urinary retention has been a chronic issue, an overfilled bladder may not necessarily be associated with abdominal discomfort. A careful abdominal exam is needed to palpate an enlarged bladder.

Because many mitochondrial patients have problems with gut dysfunction making adequate fluid (and calorie) intake a challenge, a reduction in urine output may be viewed as indicative of an under-hydrated state. It would seem appropriate in an emergency room setting then to provide intravenous fluids to increase urine output. If this doesn't happen (or if an enlarged bladder is palpated on examination), the possibility of urinary retention should be considered rather than a sign that another bolus of IV fluids is required.

The more severe complications that can occur as a result of chronic bladder dysfunction include urinary tract infections, urinary incontinence, vesico-ureteral reflux producing renal disease or pyelonephritis. The presence of a urine infection itself can also impact bladder function in addition to symptoms like dysuria, frequency, and/or hematuria.

Mitochondrial Differential Diagnosis

1. Bladder dysfunction (neurogenic bladder) -

a. Permanent reflecting disease progression

b. Transient due to certain triggers (like viral or bladder infection or severe constipation)


1. Assess bladder function - frequency, urgency, volume, incontinence.

2. History of infections in the bladder and kidney.

3. Document actual fluid intake and hydration status.

4. Assess for urine infection and constipation.

5. Assess bladder and kidneys on examination.

6. If a urinary tract infection is a possibility, a urinalysis and urine culture should be obtained.


1. If patient is dehydrated and bladder is not distended, provide IV fluids. Monitor urine output; if output is low, assess the size of the bladder.

2. If hydration is less of an issue and bladder is enlarged, use strategies to encourage the patient to void; if the patient does no respond, s/he might require catheterization.

3. If urinary retention appears to be a chronic issue, assess for urine infection.

4. Evidence of significant or recurrent bladder dysfunction.

5. If appropriate, Crede maneuvers of the bladder.


Axelrod FB, Chelimsky G, Weese-Mayer DE. Pediatric autonomic disorders. Pediatrics 2006;118:309-21.

Garcia-Velasco A, Gomez-Escalonilla C, Guerra-Vales JM, et al. Intestinal pseudo-obstruction and urinary retention: Cardinal features of a mitochondrial DNA-related disease. J Intern Med 2003;253:381-5.

Zelnik N, Axelrod FB, Leschinsky E, et al. Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 1996;14:251-4.

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