Abstract
Objective: To design a novel system of scoring prune belly syndrome (PBS) phenotypic severity at any presenting age and apply it to a large pilot cohort. Patients and Methods: From 2000 to 2017, patients with PBS were recruited to our prospective PBS study and medical records were cross-sectionally analysed, generating individualised RUBACE scores. We designed the pragmatic RUBACE-scoring system based on six sub-scores (R: renal, U: ureter, B: bladder/outlet, A: abdominal wall, C: cryptorchidism, E: extra-genitourinary, generating the acronym RUBACE), yielding a potential summed score of 0–31. The ‘E’ score was used to segregate syndromic PBS and PBS-plus variants. The cohort was scored per classic Woodard criteria and RUBACE scores compared to Woodard category. Results: In all, 48 males and two females had a mean (range) RUBACE score of 13.8 (8–25) at a mean age of 7.3 years. Segregated by phenotypic categories, there were 39 isolated PBS (76%), six syndromic PBS (12%) and five PBS-plus (10%) cases. The mean RUBACE scores for Woodard categories 1, 2, and 3 were 20.5 (eight patients), 13.8 (25), and 10.6 (17), respectively (P < 0.001). Conclusions: RUBACE is a practical, organ/system level, phenotyping tool designed to grade PBS severity and categorise patients into isolated PBS, syndromic PBS, and PBS-plus groups. This standardised system will facilitate genotype–phenotype correlations and future prospective multicentre studies assessing medical and surgical treatment outcomes.
| Original language | English (US) |
|---|---|
| Journal | BJU International |
| DOIs | |
| State | Accepted/In press - Jan 1 2018 |
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Keywords
- cryptorchidism
- megacystis
- Prunebelly syndrome
- severity score
ASJC Scopus subject areas
- Urology
Cite this
Phenotypic severity scoring system and categorisation for prune belly syndrome : application to a pilot cohort of 50 living patients. / Wong, Daniel G.; Arevalo, Michelle K.; Passoni, Niccolo Maria; Iqbal, Nida S.; Jascur, Thomas; Kern, Adam J.; Sanchez, Emma J.; Satyanarayan, Arthi; Gattineni, Jyothsna; Baker, Linda A.
In: BJU International, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Phenotypic severity scoring system and categorisation for prune belly syndrome
T2 - application to a pilot cohort of 50 living patients
AU - Wong, Daniel G.
AU - Arevalo, Michelle K.
AU - Passoni, Niccolo Maria
AU - Iqbal, Nida S.
AU - Jascur, Thomas
AU - Kern, Adam J.
AU - Sanchez, Emma J.
AU - Satyanarayan, Arthi
AU - Gattineni, Jyothsna
AU - Baker, Linda A.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Objective: To design a novel system of scoring prune belly syndrome (PBS) phenotypic severity at any presenting age and apply it to a large pilot cohort. Patients and Methods: From 2000 to 2017, patients with PBS were recruited to our prospective PBS study and medical records were cross-sectionally analysed, generating individualised RUBACE scores. We designed the pragmatic RUBACE-scoring system based on six sub-scores (R: renal, U: ureter, B: bladder/outlet, A: abdominal wall, C: cryptorchidism, E: extra-genitourinary, generating the acronym RUBACE), yielding a potential summed score of 0–31. The ‘E’ score was used to segregate syndromic PBS and PBS-plus variants. The cohort was scored per classic Woodard criteria and RUBACE scores compared to Woodard category. Results: In all, 48 males and two females had a mean (range) RUBACE score of 13.8 (8–25) at a mean age of 7.3 years. Segregated by phenotypic categories, there were 39 isolated PBS (76%), six syndromic PBS (12%) and five PBS-plus (10%) cases. The mean RUBACE scores for Woodard categories 1, 2, and 3 were 20.5 (eight patients), 13.8 (25), and 10.6 (17), respectively (P < 0.001). Conclusions: RUBACE is a practical, organ/system level, phenotyping tool designed to grade PBS severity and categorise patients into isolated PBS, syndromic PBS, and PBS-plus groups. This standardised system will facilitate genotype–phenotype correlations and future prospective multicentre studies assessing medical and surgical treatment outcomes.
AB - Objective: To design a novel system of scoring prune belly syndrome (PBS) phenotypic severity at any presenting age and apply it to a large pilot cohort. Patients and Methods: From 2000 to 2017, patients with PBS were recruited to our prospective PBS study and medical records were cross-sectionally analysed, generating individualised RUBACE scores. We designed the pragmatic RUBACE-scoring system based on six sub-scores (R: renal, U: ureter, B: bladder/outlet, A: abdominal wall, C: cryptorchidism, E: extra-genitourinary, generating the acronym RUBACE), yielding a potential summed score of 0–31. The ‘E’ score was used to segregate syndromic PBS and PBS-plus variants. The cohort was scored per classic Woodard criteria and RUBACE scores compared to Woodard category. Results: In all, 48 males and two females had a mean (range) RUBACE score of 13.8 (8–25) at a mean age of 7.3 years. Segregated by phenotypic categories, there were 39 isolated PBS (76%), six syndromic PBS (12%) and five PBS-plus (10%) cases. The mean RUBACE scores for Woodard categories 1, 2, and 3 were 20.5 (eight patients), 13.8 (25), and 10.6 (17), respectively (P < 0.001). Conclusions: RUBACE is a practical, organ/system level, phenotyping tool designed to grade PBS severity and categorise patients into isolated PBS, syndromic PBS, and PBS-plus groups. This standardised system will facilitate genotype–phenotype correlations and future prospective multicentre studies assessing medical and surgical treatment outcomes.
KW - cryptorchidism
KW - megacystis
KW - Prunebelly syndrome
KW - severity score
UR - http://www.scopus.com/inward/record.url?scp=85053524142&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85053524142&partnerID=8YFLogxK
U2 - 10.1111/bju.14524
DO - 10.1111/bju.14524
M3 - Article
JO - BJU International
JF - BJU International
SN - 1464-4096
ER -