Urological manifestations of Duchenne muscular dystrophy.
OBJECTIVE
Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date.


METHODS
We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup.


RESULTS
Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology.


CONCLUSIONS
As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists.
Department of Urology, University of Iowa, Iowa City, Iowa.
Eric J
EJ
Askeland
Angela M
AM
Arlen
Bradley A
BA
Erickson
Katherine D
KD
Mathews
Christopher S
CS
Cooper
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007484:Iowa / Q000453:epidemiology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications*; D015995:Prevalence; D012189:Retrospective Studies; D014555:Urination Disorders / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D014563:Urodynamics
BMD; Becker muscular dystrophy; D/BMD; DMD; Duchenne; Duchenne muscular dystrophy; Duchenne-BMD; LUTS; UDS; X chromosome; complications; lower urinary tract symptoms; muscular dystrophy; urinary tract; urodynamics