Prune belly syndrome

What causes prune belly syndrome (PBS)?

The underlying cause of PBS is unknown. PBS can occur in association with trisomy 18 and trisomy 21 (Down syndrome). Additionally, a mutation in the CHRM3 gene has been reported in one family with a history of prune belly syndrome. Otherwise, an underlying genetic cause has not been identified.

There are several theories regarding the development of prune belly syndrome. Some researchers think it may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. While other researchers consider the urinary abnormalities to be secondary to the incomplete development of the bladder.

Last updated on 05-01-20

What is the long-term outlook for prune belly syndrome?

The prognosis associated with prune belly syndrome varies depending several factors including the severity of the underlying tract anomaly, how well the kidneys are developed, and the likelihood of renal failure. The condition can become life threatening in severely affected children; however, mild cases might be limited to undescended testicles and a small amount of abdominal wall laxity. Studies have found that 30% of individuals with prune belly syndrome require kidney transplantation in their lifetime.

Despite these concerns, many individuals with prune belly syndrome report having good physical and mental health as well as a good overall quality of life.

Last updated on 05-01-20

How might prune belly syndrome (PBS) be treated?

The initial evaluation of the newborn with PBS requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the individual's age, health, medical history, extent of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.

In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient.

Last updated on 05-01-20

Social Networking Websites

PUVs

PUVs online discussion group is designed for families with children with posterior urethral valves, prune belly syndrome, VATERS, or other congenital urologic or kidney anomaly.

Last updated on 04-27-20

Name: Prune Belly Syndrome Network, Inc. P.O. Box 16071
Philadelphia, PA, 19154, United States
Phone: 855-ASK-PBSN Url: http://www.prunebelly.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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