Bladder-sphincter disorders associated with Wolfram syndrome

To identify and describe functional urinary symptoms, uro-nephrological complications and their impact on quality of life in a cohort of patients diagnosed with the Wolfram syndrome (SW). A transversal descriptive patient's cohort study was performed. The Urinary Symptom Profile (USP) and the International Consultation Incontinence Questionnaire - Female Lower Urinary Tracts Symptoms (ICIQ-FLUTS) were used to evaluate urinary symptoms and their impact on quality of life through direct interviews conducted by telephone. A less than 6-month old renal ultrasound and serum creatinine results were asked to the patient or physician. Thirty-three patients have been contacted and 22 (73%) agreed to participate in this study. Eighteen patients over 22 had spontaneous micturition when four of them had an urinary diversion (two definitive, two temporaries) before being included in this study. Seventy-three percent of patients with spontaneous micturition had urinary symptoms. A severe or moderate symptoms score was noted in 67% (12/18 patients) and 11% (2/18 patients) respectively. Functional urinary dysfunctions were frequent and impacted quality of life in more than one half of patients diagnosed with SW in this study. Early diagnostic and regular urological follow-up can improve the quality of life and prevent severe urinary complications.