Disease relevance of Bladder Exstrophy

• The diagnosis was androgen insensitivity in 7 patients, congenital adrenal hyperplasia in 2 due to 17 alpha-hydroxylase deficiency and 3 beta-hydroxysteroid dehydrogenase deficiency, respectively, and bladder exstrophy in 1 who required sex reassignment [1].
• RESULTS: At an average followup of 62 months (range 52 to 87) serum chloride and bicarbonate significantly normalized (p <0.05) in all 7 patients with bladder exstrophy or myelomeningocele [2].
• RESULTS: A total of 16 patients 8 to 22 years old were treated with dextranomer/hyaluronic acid copolymer, including 3 with neurogenic bladder, 8 with bladder exstrophy after 3-stage reconstruction, 4 with penopubic epispadias and 1 with urogenital sinus [3].
• BACKGROUND: Classic bladder exstrophy is a developmental defect presenting at birth with a wide pubic separation and an exposed bladder; cloacal exstrophy involves, in addition, intestinal prolapse [4].
• The abnormalities were: primary vesicoureteric reflux (VUR) or renal dysplasia (26 patients); posterior urethral valves (PUV) (15); neuropathic bladders (6); vesico-ureteric tuberculosis (5); bladder exstrophy (3); and prune belly syndrome (1) [5].

High impact information on Bladder Exstrophy

• The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs [6].
• This observation suggests possible involvement of CNTNAP3 in the etiology of bladder exstrophy [7].
• We found varying alteration in bone mineral density and HCO3 levels in patients with bladder exstrophy [8].
• CONCLUSIONS: In children with bladder exstrophy bladder augmentation or neobladder creation may have an adverse effect on linear growth [9].
• CONCLUSIONS: Men born with bladder exstrophy have detectable serum PSA levels [10].

Chemical compound and disease context of Bladder Exstrophy

• Latex allergy in subjects who had undergone multiple surgical procedures for bladder exstrophy: relationship with clinical intervention and atopic diseases [11].
• Thirteen different defects not described in the literature were seen in our misoprostol exposed cases, but only holoprosencephaly and bladder exstrophy significantly exceeded the expected number [12].

Gene context of Bladder Exstrophy

• Two patients following bladder exstrophy repair presented for final cosmetic reconstruction with the characteristic lower abdominal midline scar, bisected mons pubis, and laterally displaced labia majora [13].
• Abnormalities of colonic mucin secretion and metabolic changes after internal urinary diversion for bladder exstrophy. A prospective study [14].

Analytical, diagnostic and therapeutic context of Bladder Exstrophy

• Northern blot analysis of lymphoblast and bladder RNA confirmed CNTNAP3 transcripts in these tissues and did not show abnormal CNTNAP3 expression in the proband and two unrelated patients with bladder exstrophy [7].
• Immunohistochemistry for PSA and prostate-specific acid phosphatase (PSAP) was performed on archival prostate tissue from 1 man with bladder exstrophy [10].

References