Urological manifestations of the Wolfram syndrome: Observations in 14 patients

Purpose: Since the initial description of the Wolfram syndrome, various ano malies have been associated with this rare entity. Urinary tract dilatation and bladder dysfunction, usually in the form of a large, atonic bladder, a re coexisting features of this syndrome that are commonly believed to be se condary to high urine output in diabetes insipidus, The presentation and na ture of the urological manifestations of this syndrome remain controversial due to the lack of large series in the literature. We evaluated the urolog ical manifestations of this rare syndrome. To our knowledge we report the l argest series of patients (14) with the Wolfram syndrome who underwent a co mplete urological evaluation. Materials and Methods: Eight boys and 6 girls with a mean age of 13.4 years underwent upper tract imaging and a video urodynamic investigation. A mult idisciplinary consultation was obtained to investigate all components of th e syndrome. Results: Upper tract dilatation was present in 11 patients. Urodynamics rev ealed a normal bladder in only 1 patient, who also had severe hydronephrosi s. Seven patients had a low capacity, high pressure bladder, while-g had an atonic bladder. The type of bladder dysfunction did not correlate with tim e since the onset of diabetes mellitus or diabetes insipidus, or the severi ty of hydronephrosis. Three patients with sphincteric dyssynergia also had a hyperreflexic bladder. Conclusions: Contrary to some earlier reports, our findings suggest that bl adder dysfunction does not always present as a large atonic bladder in the Wolfram syndrome. A low capacity, high pressure bladder with sphincteric dy ssynergia is also common. The presence and duration of other syndrome manif estations do not correlate with the type of bladder dysfunction, suggesting that bladder dysfunction may also be a primary rather than secondary compo nent of the syndrome.