Table 2 PBS Subject’s Detailed Medical and Surgical History

From: PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome

Bladder

Urinates through urethra, APV, childhood bladder infections

Ureter

Hydroureter, moderate reflux.

Kidney

Hydronephrosis bilaterally with 30% & 70% renal function, CKD grade 2

GI

Constipation managed by diet and laxatives

Heart

Random episodes of SVT and catheter ablation at teenager

MSK

Underdeveloped abdominal muscles, flared rib, and dimpled knees

Surgical history

Vesicostomy, mitrofanoff, abdominoplasty, bilateral orchiopexy, and heart surgery

PBS Severity (RUBACE score)

RUBACE 15 (moderate)

  1. 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.
  2. CKD chronic kidney disease, APV appendicovesicostomy, GI gastrointestinal, SVT Supraventricular tachycardia, MSK musculoskeletal.
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