Phenotypic severity scoring system and categorisation for prune belly syndrome

application to a pilot cohort of 50 living patients

Daniel G. Wong, Michelle K. Arevalo, Niccolo Maria Passoni, Nida S. Iqbal, Thomas Jascur, Adam J. Kern, Emma J. Sanchez, Arthi Satyanarayan, Jyothsna Gattineni, Linda A. Baker

Research output: Contribution to journalArticle

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 languageEnglish (US)
JournalBJU International
DOIs
StateAccepted/In press - Jan 1 2018

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Prune Belly Syndrome
Cryptorchidism
Abdominal Wall
Ureter

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 journalArticle

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. / Phenotypic severity scoring system and categorisation for prune belly syndrome : application to a pilot cohort of 50 living patients. In: BJU International. 2018.
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title = "Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients",
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.",
keywords = "cryptorchidism, megacystis, Prunebelly syndrome, severity score",
author = "Wong, {Daniel G.} and Arevalo, {Michelle K.} and Passoni, {Niccolo Maria} and Iqbal, {Nida S.} and Thomas Jascur and Kern, {Adam J.} and Sanchez, {Emma J.} and Arthi Satyanarayan and Jyothsna Gattineni and Baker, {Linda A.}",
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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

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