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.
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.
Authors: Stefanie Weber; Holger Thiele; Sevgi Mir; Mohammad Reza Toliat; Betül Sozeri; Heiko Reutter; Markus Draaken; Michael Ludwig; Janine Altmüller; Peter Frommolt; Helen M Stuart; Parisa Ranjzad; Neil A Hanley; Rachel Jennings; William G Newman; Duncan T Wilcox; Uwe Thiel; Karl Peter Schlingmann; Rolf Beetz; Peter F Hoyer; Martin Konrad; Franz Schaefer; Peter Nürnberg; Adrian S Woolf Journal: Am J Hum Genet Date: 2011-11-11 Impact factor: 11.025
Authors: Todd MacKenzie; Alex H Gifford; Kathryn A Sabadosa; Hebe B Quinton; Emily A Knapp; Christopher H Goss; Bruce C Marshall Journal: Ann Intern Med Date: 2014-08-19 Impact factor: 25.391
Authors: P T Brook-Carter; B Peral; C J Ward; P Thompson; J Hughes; M M Maheshwar; M Nellist; V Gamble; P C Harris; J R Sampson Journal: Nat Genet Date: 1994-12 Impact factor: 38.330
Authors: Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker Journal: Am J Med Genet A Date: 2018-10-04 Impact factor: 2.802
Authors: Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker Journal: BMC Med Genet Date: 2020-02-21 Impact factor: 2.103