Urological manifestations of the Wolfram syndrome: observations in 14 patients

Since the initial description of the Wolfram syndrome, various anomalies have been associated with this rare entity. Urinary tract dilatation and bladder dysfunction, usually in the form of a large, atonic bladder, are coexisting features of this syndrome that are commonly believed to be secondary to high urine output in diabetes insipidus. The presentation and nature of the urological manifestations of this syndrome remain controversial due to the lack of large series in the literature. We evaluated the urological manifestations of this rare syndrome. To our knowledge we report the largest series of patients (14) with the Wolfram syndrome who underwent a complete urological evaluation.

Eight boys and 6 girls with a mean age of 13.4 years underwent upper tract imaging and a video urodynamic investigation. A multidisciplinary consultation was obtained to investigate all components of the syndrome.

Upper tract dilatation was present in 11 patients. Urodynamics revealed a normal bladder in only 1 patient, who also had severe hydronephrosis. Seven patients had a low capacity, high pressure bladder, while 6 had an atonic bladder. The type of bladder dysfunction did not correlate with time since the onset of diabetes mellitus or diabetes insipidus, or the severity of hydronephrosis. Three patients with sphincteric dyssynergia also had a hyperreflexic bladder.

Contrary to some earlier reports, our findings suggest that bladder dysfunction does not always present as a large atonic bladder in the Wolfram syndrome. A low capacity, high pressure bladder with sphincteric dyssynergia is also common. The presence and duration of other syndrome manifestations do not correlate with the type of bladder dysfunction, suggesting that bladder dysfunction may also be a primary rather than secondary component of the syndrome.