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.
N1 - Funding Information:
This study was supported in part by a National Institute of Health (NIH) grant R01 DK105068 (Principal Investigator: L.?Baker). Our sincere thanks to the stalwart PBS survivors and their families, as well as the entire Prune Belly Syndrome Network (www.prunebelly.org), for their enthusiastic and tireless support of and participation in this study. We welcome additional study participation from PBS families and collaborations with healthcare providers and major centres nationally and internationally. For more information, please contact Emma Sanchez (emma.sanchez@childrens.com) and/or Linda Baker (linda.baker@childrens.com).
Funding Information:
This study was supported in part by a National Institute of Health (NIH) grant R01 DK105068 (Principal Investigator: L. Baker).
Publisher Copyright:
© 2018 The Authors BJU International © 2018 BJU International Published by John Wiley & Sons Ltd
PY - 2019/1
Y1 - 2019/1
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 - Prunebelly syndrome
KW - cryptorchidism
KW - megacystis
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
C2 - 30113772
AN - SCOPUS:85053524142
VL - 123
SP - 130
EP - 139
JO - British Journal of Urology
JF - British Journal of Urology
SN - 1464-4096
IS - 1
ER -