Background:Given the extreme rarity and possible diagnostic confusion of female Prune Belly syndrome (PBS), a scarcity of information on females born with PBS exists. With the rise of social media, these connected communities of female PBS patients provide an opportunity to identify medical and social challenges faced by them.
Methods:A 23-question, anonymous, non-validated REDCap survey was created, and IRB approved. The survey link was circulated through our institutional social media pages. The survey included questions about their long-term urinary/genital/sexual function outcomes (Figure 1). No medical records were reviewed on these subjects. Due to diagnostic uncertainty regarding females with post-natal abdominal laxity, participants were queried as to whether they had a diagnosis of cloacal anomaly in addition to PBS. Self/family-reported outcomes of prepubertal (≤10y) versus post-pubertal (>11y) patients were compared by Chi-square analysis with significance p<0.05 (GraphPad software).
Results:Members of the PBS Network elected to share this social media-based survey to a private Facebook group. Nine adults with PBS and 6 caregivers completed the survey for 15 PBS females (ages 2-63y [mean 25y]). 67% prefer the term PBS over Eagle-Barrett Syndrome. 38% reported diagnosis of PBS + cloacal anomaly, suggesting possible diagnostic confusion. 60% of PBS + cloaca anomaly females (mean age 15y) manifest kidney dysfunction compared to only 12% of PBS patients (mean age 31y) without cloaca anomaly (p=0.071). Details of self-reported urinary incontinence (64%), CIC (33%), kidney dysfunction or failure (43%), and female reproductive anomalies (67%) and function are seen in Table 2, based on pre- and post-pubertal status. Of the 9 females who are sexually active, 56% patients have successfully become pregnant. 2 patients had successful vaginal birth, 1 patient had a successful cesarean section, 1 patient had a miscarriage, and 1 patient had an abortion. Self-reported challenges include multiple hospital admissions and surgeries, depression, lack of independency, body image issues, and fatigue. 93% of patients reported difficulties with physical activity (inability to run and play sports, wheelchair-bound, and minimal exercise limited by severe pain).
Conclusions:Leveraging social media can provide information on rare disease patient outcomes, with the caveat of self-reporting biases. Considering this, the primary challenges reported by female PBS patients were urinary incontinence and congenital genitourinary defects requiring multiple surgeries and hospital stays. Despite anomalies and 67% sexual dissatisfaction, 56% had pregnancies, underscoring the importance that genetic testing may play. Additionally, many patients reported great difficulty with exercise and their daily activities. More research is needed to clarify the diagnoses and define long-term outcomes in females with PBS.
| Table 1: Survey Questions |
| Are you a female with Eagle-Barrett syndrome (Prune Belly syndrome)? |
| Are you the main guardian/caregiver of a female with Eagle-Barrett syndrome (Prune Belly syndrome)? |
| Do you prefer the term Eagle-Barrett Syndrome or Prune-Belly Syndrome? |
| Age in years of female with Eagle-Barrett syndrome (EBS) (if your child is less than 1 year of age please type 0 and go to the next question). |
| If your child is less than 1 year of age, please type age in months (if greater than 1 year please type 0). |
| Has the individual with EBS ever been diagnosed with a cloacal anomaly? |
| Has the individual with EBS ever had genetic testing performed? |
| If you answered yes to the previous question, please list the types of genetic testing the individual with EBS has had. (If unsure, please type ''unsure''). |
| If you answered yes to the previous questions regarding genetic testing, please list the results of the genetic testing the individual with EBS has received. (If unsure, please type ''unsure''). |
| Does the individual with EBS have chronic kidney disease? |
| Is the individual with EBS on dialysis? |
| Has the individual with EBS had a kidney transplant? |
| Does the individual with EBS require intermittent catheterization on a daily basis to be able to urinate? |
| Does the individual with EBS have trouble with leaking urine? |
| If yes to the previous question, how severe is urinary leaking in the individual with EBS? |
| Does the individual with EBS have any vaginal problems? |
| If you answered yes above, what type of vaginal problem does the individual with EBS have? |
| If you answered ''other'' to the previous question, please describe here. |
| Does the individual with EBS have any uterine problems? |
| If you answered yes above, what type of uterine problem does the individual with EBS have? |
| If you answered ''other'' in the previous question, please describe here. |
| As a female with EBS, how satisfied are you with your sexual life? |
| As a female with EBS, have you ever been pregnant? |
| If you answered ''yes'' to the previous question, please answer here. If you answered ''no'' to the previous question, please choose ''N/A''. As a female who has been pregnant, what was the outcome of this pregnancy? |
| What types of physical activity/exercise is the individual with EBS able to enjoy? |
| Are there any other ways that EBS has impacted you or your loved one''s life? If so, please explain. |
| Table 2: | Pre-Pubertal (≤10y) | Post-Pubertal (>11y) | P value |
| Total Participants | 5 | 10 | 0.21 |
| Total Participants PBS Diagnosis | 2 | 6 | |
| PBS + Cloacal Anomaly | 3 (60%) | 2** (25%) | 0.21 |
| Chronic Kidney Disease | 3 (60%) | 2** (25%) | 0.21 |
| Dialysis | 1 (20%) | 0 (0%) | 0.14 |
| Kidney Transplant | 1 (20%) | 3 (30%) | 0.68 |
| CIC | 3 (60%) | 2 (20%) | 0.12 |
| Urinary Incontinence | 3 (60%) | 6 (60%) | >0.99 |
| Vaginal Anomaly | 5 (100%) | 5 (50%) | 0.05 |
| Uterine Anomaly | 3* (75%) | 4* (44%) | 0.31 |
| Pregnancy | N/A | 5 (3 livebirths) (56%) | N/A |
| Sexually active | N/A | 9 (90%) | N/A |
| Sexual satisfaction | N/A | 6 dissatisfied (67%)3 satisfied (33%) | N/A |
| Genetic Testing | 5 (100%) | 4* (44%) | 0.04 |
| *1 patient reported unsure **2 patients reported unsure | |||
