WS and Urological Manifestations

Structural and functional urinary tract abnormalities are commonly seen in patients with Wolfram syndrome and significantly affect quality of life. Yearly assessment of renal function, measurement of postvoid residual urine volume by ultrasound, a renal ultrasound, and urodynamic testing are recommended. A large atonic bladder, a low-capacity, high-pressure bladder with sphincteric dyssynergia, and hydroureteronephrosis are common manifestations. Both bladder dysfunction and upper urinary tract dilatation are primary manifestations although these symptoms may be partially affected by diabetes mellitus and diabetes insipidus. The treatment options for bladder dysfunction include anticholinergic drugs and clean intermittent catheterization. Electrical stimulation and physiotherapy have been effective in some patients.

Recurrent urinary tract infection (UTI) is one of the most common clinical challenges in patients with Wolfram syndrome. The bladder dysfunction caused by the central and peripheral neurologic dysfunction is thought to be the underlying cause of UTI. Urine culture is recommended for Wolfram patients with fever or other symptoms, such as headache. Inflammatory conditions associated with UTI may cause headache and other symptoms.