title: Impact and frequency of extra-genitourinary manifestations of prune belly syndrome.
abstract: BACKGROUND
  Prune belly syndrome (PBS) extra-genitourinary (extra-GU) manifestations are serious comorbidities beyond the genitourinary (GU) anomalies of this disease. We hypothesized an underestimation of the reported frequency and understated impact on quality of life (QOL) of extra-GU comorbidities in PBS survivors beyond the newborn period. To assess this, the frequencies of extra-GU manifestations of PBS in a contemporary cohort of living patients were compared to compiled frequencies from published literature. Second, the impact of extra-GU PBS manifestations on patient/family QOL was assessed via a non-validated open-ended survey.
  
  
  METHODS
  From 2010 to 2013, PBS survivors were prospectively recruited locally or at three PBS Network National Conventions. The family/subject was asked to complete a detailed PBS questionnaire, non-validated QOL survey, and provide medical records for review. Clinical data were extracted from medical records for local patients. The frequencies of extra-GU manifestations were compared between the contemporary, living cohort and a published literature cohort derived from PubMed.
  
  
  CONCLUSIONS
  Seven of 706 published studies met criteria for frequencies tabulation of extra-GU PBS manifestations. This largest reported living PBS patient cohort (n = 65) was 99% male with mean age 10 years (1 month-45 years). The living PBS cohort had a statistically significantly higher incidence of gastrointestinal (63%), orthopedic (65%), and cardiopulmonary (49%) diagnoses compared to the compiled published cohort (n = 204). Eleven PBS males and 32 family members completed the QOL survey. Of these, 47% listed at least one non-GU problem (i.e. lung disease, skeletal problems, constipation) as negatively affecting their QOL; 42% listed at least one GU problem (i.e. self-catheterization, recurrent UTIs) as negatively affecting their QOL; 56% reported musculoskeletal surgery and 21% reported gastrointestinal surgery/medication as positively impacting their QOL.
  
  
  CONCLUSIONS
  In this large contemporary series, surviving individuals with PBS had a significantly higher incidence of orthopedic, gastrointestinal, and cardiopulmonary diagnoses than previously reported in PBS publications. From the patient/family QOL perspective, non-GU PBS manifestations negatively impact their QOL and treatment of these non-GU conditions improves their lives. As urologic surgeons for these medically complex patients, it is extremely important to be aware of and prepare for the high incidence of non-GU PBS comorbidities directly impacting the medical and surgical treatment and QOL of PBS patients and their families.
authors.affiliation: Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: gwen.grimsby@gmail.com.
authors.forename: G M
authors.initials: GM
authors.lastname: Grimsby
authors.affiliation: Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: sharrison6@partners.org.
authors.forename: S M
authors.initials: SM
authors.lastname: Harrison
authors.affiliation: Department of Urology, Mayo Clinic, Rochester, MN, USA. Electronic address: granberg.candace@mayo.edu.
authors.forename: C F
authors.initials: CF
authors.lastname: Granberg
authors.affiliation: Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: ira.bernstein@utsouthwestern.edu.
authors.forename: I H
authors.initials: IH
authors.lastname: Bernstein
authors.affiliation: Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: linda.baker@childrens.com.
authors.forename: L A
authors.initials: LA
authors.lastname: Baker
mesh_terms: D005767:Gastrointestinal Diseases / Q000453:epidemiology* / Q000209:etiology; D014943:Global Health; D006801:Humans; D015994:Incidence; D008171:Lung Diseases / Q000453:epidemiology* / Q000209:etiology; D008297:Male; D011535:Prune Belly Syndrome / Q000150:complications*; D012600:Scoliosis / Q000453:epidemiology* / Q000209:etiology
keywords: Cardiopulmonary; Constipation; Gastrointestinal; Orthopedic; Prune belly syndrome; Scoliosis