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

2 Scopus citations

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)
Pages (from-to)130-139
Number of pages10
JournalBJU international
Volume123
Issue number1
DOIs
StatePublished - Jan 2019

Keywords

  • Prunebelly syndrome
  • cryptorchidism
  • megacystis
  • severity score

ASJC Scopus subject areas

  • Urology

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    Wong, D. G., Arevalo, M. K., Passoni, N. M., Iqbal, N. S., Jascur, T., Kern, A. J., Sanchez, E. J., Satyanarayan, A., Gattineni, J., & Baker, L. A. (2019). Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients. BJU international, 123(1), 130-139. https://doi.org/10.1111/bju.14524