Clinical manifestations and initial management of infants with bladder exstrophy
- Joseph G Borer, MD, FAAP, FACS
Joseph G Borer, MD, FAAP, FACS
- Associate Professor in Surgery (Urology)
- Harvard Medical School
- Director of Bladder Exstrophy Program
- Boston Children's Hospital
- Director of Neurourology and Urodynamics
- Boston Children's Hospital
Bladder exstrophy is a complex congenital anomaly involving the musculoskeletal system and the urinary, reproductive, and intestinal tracts. It is one of three disorders within the exstrophy-epispadias complex.
The diagnosis, clinical features, and initial management of bladder exstrophy are reviewed here. The surgical management and postoperative care of children with bladder exstrophy are discussed separately. (See "Surgical management and postoperative outcome of children with bladder exstrophy".)
The exstrophy-epispadias complex (EEC) encompasses the following congenital anomalies, including bladder exstrophy.
●Epispadias, the least severe defect of the group, is characterized by failure of the urethra to close normally, and as a result, the inner lining of the urethra lays flat and exposed on the dorsal (top) surface of the penis. Patients with bladder exstrophy will also have epispadias. However, isolated epispadias is less common than classical bladder exstrophy and is diagnosed in 1 in 200,000 to 400,000 live births.
●Bladder exstrophy is classically characterized by an open, inside-out bladder (the inner surface exposed) on the surface of the lower abdominal wall and an open exposed dorsal urethra (picture 1 and figure 1 and picture 2 and picture 3). Bladder exstrophy usually involves several organ systems in the body, including the urinary tract, the reproductive tract, the digestive system, the muscles and the skin of the lower abdominal wall, and the muscles and bones of the pelvis.
- Marshall VF, Muecke EC. Congenital abnormalities of the bladder. In: Handbuch de Urologie, Springer-Verlag, New York 1968. p.165.
- Epidemiology of bladder exstrophy and epispadias: a communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology 1987; 36:221.
- Jayachandran D, Bythell M, Platt MW, Rankin J. Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. J Urol 2011; 186:2056.
- Shapiro E, Lepor H, Jeffs RD. The inheritance of the exstrophy-epispadias complex. J Urol 1984; 132:308.
- Nelson CP, Dunn RL, Wei JT. Contemporary epidemiology of bladder exstrophy in the United States. J Urol 2005; 173:1728.
- Messelink EJ, Aronson DC, Knuist M, et al. Four cases of bladder exstrophy in two families. J Med Genet 1994; 31:490.
- Sponseller PD, Bisson LJ, Gearhart JP, et al. The anatomy of the pelvis in the exstrophy complex. J Bone Joint Surg Am 1995; 77:177.
- Stec AA, Pannu HK, Tadros YE, et al. Evaluation of the bony pelvis in classic bladder exstrophy by using 3D-CT: further insights. Urology 2001; 58:1030.
- Mundy A, Kushare I, Jayanthi VR, et al. Incidence of Hip Dysplasia Associated With Bladder Exstrophy. J Pediatr Orthop 2016; 36:860.
- Gearhart J. Exstrophy, Epispadias, and Other Bladder Anomalies, 8th, WB Saunders, Philadelphia 2002.
- Connolly JA, Peppas DS, Jeffs RD, Gearhart JP. Prevalence and repair of inguinal hernias in children with bladder exstrophy. J Urol 1995; 154:1900.
- Silver RI, Yang A, Ben-Chaim J, et al. Penile length in adulthood after exstrophy reconstruction. J Urol 1997; 157:999.
- Halachmi S, Farhat W, Konen O, et al. Pelvic floor magnetic resonance imaging after neonatal single stage reconstruction in male patients with classic bladder exstrophy. J Urol 2003; 170:1505.
- Mathews RI, Gan M, Gearhart JP. Urogynaecological and obstetric issues in women with the exstrophy-epispadias complex. BJU Int 2003; 91:845.
- Borer JG, Gargollo PC, Hendren WH, et al. Early outcome following complete primary repair of bladder exstrophy in the newborn. J Urol 2005; 174:1674.
- Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC. Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol 1995; 85:961.
- Gargollo PC, Borer JG, Retik AB, et al. Magnetic resonance imaging of pelvic musculoskeletal and genitourinary anatomy in patients before and after complete primary repair of bladder exstrophy. J Urol 2005; 174:1559.