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High Incidence of Urologic Manifestations In Duchenne Muscular Dystrophy

Saturday, October 20, 2012: 1:51 PM
Grand Ballroom A/B (Hilton Riverside)
Eric J. Askeland, MD1, Angela M. Arlen, MD1, Katherine D. Mathews, MD, FAAP2 and Christopher S. Cooper, MD, FAAP, FACS1, (1)Department of Urology, University of Iowa, Iowa City, IA, (2)Departments of Neurology and Pediatrics, University of Iowa, Iowa City, IA

Purpose: Duchenne muscular dystrophy (DMD) is a dystrophinopathy with multiple organ system complications. Patients are seen by a multi-disciplinary team of physicians, most commonly including a neurologist, pulmonologist and cardiologist. Improvements in care have altered the clinical course and extended the life expectancy of patients. Despite this improved longevity the disease continues to progress with age, thus affecting additional organ systems. A variety of anecdotal urologic complications of DMD have been reported but until now no large review of all urologic manifestations of DMD existed. We retrospectively reviewed our DMD patient population to identify the urologic diagnoses, interventions, and follow-up.

Methods: After institutional review board approval, medical charts of 135 DMD patients treated by a single pediatric neurologist (KDM) were retrospectively reviewed for age, ambulatory status, respiratory status, urologic diagnoses, urologic interventions, and urologic follow-up.

Results: Of the 135 DMD patients reviewed, 67 (50%) had at least one documented urologic diagnosis or complaint, and 38 (28%) had multiple urologic manifestations. Presence of lower urinary tract symptoms was the most common urologic diagnosis, affecting 32% of patients, with hesitancy being the most common complaint. Nocturnal or daytime enuresis was the second most common diagnosis, affecting 17% of patients.  Twelve patients (9%) required a urologic intervention, most commonly due to nephrolithiasis. Four patients (3%) had congenital adrenal hypoplasia with contiguous gene deletion syndrome in Xp21. Urologic morbidity increased with DMD disease progression. Lower urinary tract symptoms were present in 19% of ambulatory patients compared to 41% of non-ambulatory patients. Similarly, patients with no requirement for respiratory assistance, those requiring non-invasive respiratory support and those with a tracheostomy with ventilator support had lower urinary tract symptoms with frequencies of 25%, 38% and 53%, respectively. Likewise, urologic intervention became more likely as DMD progressed with 4%, 15% and 24% of these same groups requiring intervention, respectively. Only 28% of patients with urologic diagnoses were referred to a urologist. Referral was more common in patients with multiple urologic diagnoses and in those potentially requiring surgery.

Conclusion: We report the first comprehensive review of the incidences of all urologic manifestations in a DMD population. Lower urinary tract symptoms constituted the most common diagnosis, occurring in nearly one-third of patients. With advancing disease patients were more frequently diagnosed with a urologic manifestation and more likely to undergo urologic interventions, highlighting the progressive nature of DMD. As these patients transition into adolescence and adulthood, urologists need to play an increasing role in the multi-disciplinary care of this unique patient population.