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Prune Belly Syndrome was first identified in 1839 although little was known about the disease at the time. The condition was discussed in an article in 1901 and then further explored in 1950 by the researchers J.F. Eagle and G.S. Barrett.
What's in this Guide?
- What Is Prune Belly Syndrome?
- Prune Belly Syndrome Causes
- Prune Belly Syndrome Risk Factors
- Diagnosis of Prune Belly Syndrome
- Prune Belly Syndrome and Genetics
- Prune Belly Syndrome Treatment Options
- The Prognosis for Prune Belly Syndrome
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.
Genetics is a quickly changing topic. Read More...
Today, medical researchers are turning their attention to possible genetic connections for this rare congenital disease.
What Is Prune Belly Syndrome?
Prune Belly Syndrome (PBS) is a condition that develops in utero and is primarily characterized by malformation of the stomach muscles that can involve part or all of the abdomen.
Complete PBS also involves urinary tract malformations and cryptorchidism (undescended testes).
Prune Belly Syndrome is more than an abdominal deformity. It’s a disease that can impact various bodily functions and organs. The pathophysiology of prune belly syndrome is usually widespread affecting numerous areas of the body.
The condition is also known as Eagle-Barrett syndrome, triad syndrome and Obrinsky syndrome.
Prune Belly Disease Symptoms
The symptoms of Prune Belly 1 Syndrome can vary from one person to the next and severity of the condition is a contributing factor. Prune belly syndrome is known as a triad syndrome because there are three distinct characterizations:
- Abdominal muscle hypoplasia (absence of abdominal muscles)
- Urinary tract abnormalities such as an enlarged bladder
- Undescended testicles (one or both testes)
The most readily apparent symptom is that the child’s stomach will have a prune like appearance at birth due to lax skin from the absence of abdominal muscles. Because the muscles are malformed, the urinary tract organs may be palpable and the intestines may be visible.
It’s possible to see peristalsis - the movement of intestines pushing food forward.
There may also be a visible mass protruding from the abdomen if the bladder is enlarged.
There are also physical development symptoms associated with the lack of abdominal muscles. Babies and children may have difficulty sitting up or walking.
Undescended testes (cryptorchidism) can lead to another secondary symptom, decreased or abnormal fertility. Male patients may also have decreased testicular size.
Other Prune Belly Syndrome associated abnormalities include defects in the:
- Skeletal system
- Female genitalia
Urinary Tract Problems
Most children with PBS can’t empty their bladders because of urinary tract problems. This can lead to urinary tract infections, which aren’t common among healthy children.
Urinary tract infections in males is typically only present if there’s an obstruction.
Another urinary tract issue is blocked ureters. These are the tubes that carry urine from the bladder out of the body.
Ureters can also become enlarged or have an abnormality. Prune Belly Syndrome and posterior urethral valves commonly coexist. Abnormalities are usually in the urethral valves.
Other common urinary tract malformations include dilated ureters, urine accumulation in the kidneys and backflow of urine.
Some of the most serious symptoms of Prune Belly Syndrome are kidney enlargement, damage and failure. Even despite intervention, some children may suffer from kidney failure.
Pulmonary (lung) problems are also common with Prune Belly Syndrome. It can be so serious that a fetus is stillborn or dies shortly after birth.
Small or absent lungs (hypoplasia of the lungs) is actually one of the most common symptoms occurring in 80-99% of patients. Up to 79% of PBS patients experience recurrent respiratory infections and/or trouble breathing.
People with PBS can also have less serious pulmonary symptoms such as a cough.
Prune Belly Syndrome and constipation can go hand-in-hand. Anywhere from 30-79% of PBS patients deal with regular constipation.
Prune Belly Syndrome Causes
Doctors have determined that the root cause of Prune Belly Syndrome is abdominal distension from an obstruction in the urinary tract during the fetal period.
The obstruction prevents the flow of urine through the urinary tract.
Maldevelopment of the abdominal muscles is a secondary occurrence because of the distension. If the urine flow reverses it can cause the bladder to expand.
Why the urinary tract obstruction occurs in the first place is still unknown.
Is Prune Belly Syndrome Inherited?
At this time there is evidence of Prune Belly Syndrome inheritance, however, more needs to be known before that determination can be confidently made.
Prune Belly Syndrome Risk Factors
Is your child at a higher risk for developing prune belly syndrome?
Some children have an elevated risk compared to others.
Who Does Prune Belly Syndrome Affect?
Males are overwhelmingly more likely to have the condition than females. Of the recorded cases, 95% of the people affected are male. Prune belly syndrome in females is possible, it’s just much less likely.
How Common is Prune Belly Syndrome?
Prune belly syndrome statistics show that the condition is exceedingly rare.
How Many People are Diagnosed with Prune Belly syndrome?
U.S. estimates for prune belly syndrome are 1 in 35,000 to 1 in 50,000 live births.
Diagnosis of Prune Belly Syndrome
The physical abnormalities noted above are sometimes enough for a doctor to suspect Prune Belly Syndrome after birth.
There are also indications before birth if certain diagnostic tools are used. If there are no physical signs of PBS a doctor may run tests if a young child has urinary tract infections.
How Do Doctors Test for Prune Belly Syndrome?
If Prune Belly Syndrome is suspected there are several tests that may be ordered. There are Prune Belly Syndrome radiology tests, ultrasound tests and blood tests, including:
- Intravenous pyelogram (IVP) X-ray of the urinary tract using contrast dye
- Voiding cystourethrogram (VCUG) X-ray of the urinary tract using a catheter in the urethra to fill the bladder with liquid dye to detect reverse flow of urine
- Renal ultrasound using high-frequency sound waves to view the kidneys as they function
When a diagnosis is made you should see the Prune Belly Syndrome icd 10 code on medical paperwork and bills.
How to Spot or Detect Prune Belly Syndrome Early
The earliest way to detect Prune Belly Syndrome is an ultrasound. With Prune Belly Syndrome the fetal ultrasound will show an abnormal abdominal wall structure, enlarged bladder and dilated ureters.
Today, many moderate to severe PBS cases are discovered in utero.
Prune Belly Syndrome and Genetics
Is there a genetic connection to PBS? It’s a question that medical experts are exploring.
Is Prune Belly Syndrome Hereditary?
At this time it is unknown what causes the birth defect Prune Belly Syndrome. There have been cases of siblings and the offspring of first cousins having the condition 2.
Because Prune Belly Syndrome is so rare, this suggests there is some sort of hereditary element.
Recent research suggests Prune Belly Syndrome inheritance is connected to a homozygous mutation in the CHRM3 gene on chromosome 1q43. Findings from a study determined that there is an autosomal recessive inheritance element.
This was largely due to the finding that 28% of those with a familial connection were female, which is much higher than the general affected population.
Another study found a link between Prune Belly Syndrome and the HNF1β gene 3. The mutation involves chromosome 17q12 deletions.
Are Genetic Tests for Prune Belly Syndrome Available?
No one wants to pass an incurable disease down to their child, which is why some people are interested in genetic tests that can check for Prune Belly Syndrome. Unfortunately, at this time there is no Prune Belly Syndrome DNA test.
Some men with the condition are first and foremost concerned with Prune Belly Syndrome fertility issues if they have two undescended testes. Universal infertility is often an issue for men with PBS that requires reproductive assistance.
Prune Belly Syndrome Treatment Options
If a child or fetus has been diagnosed with Prune Belly Syndrome one of the top priorities is identifying the correct treatment measures.
The disease can cause very serious problems, and a thorough diagnosis is needed prior to treatment. Much of the time surgical intervention is needed. Fortunately, treatments are often successful even when PBS is severe.
Is Prune Belly Syndrome Treatable?
There are treatments for Prune Belly Syndrome, and without treatment, the condition can be very serious. The treatment option that’s selected depends on the extent of the disease, the patient’s age, overall health, the patient’s tolerance level and preference.
Abdominoplasty — Prune Belly Syndrome surgery for the abdomen (abdominoplasty) involves repairing abdominal wall musculature. Doing so should improve intestinal, pulmonary and bladder function while also improving the appearance of the stomach.
Vesicostomy — A vesicostomy is a procedure that makes a small opening in the bladder to help empty urine.
Orchiopexy — When the testes fail to descend an orchiopexy procedure is needed to move the testes into the scrotum.
Urethral Surgery — Urethral surgery may also be needed to widen the urethra and correct abnormalities. A 2012 study on long-term prognosis found that 62.5% of patients required urethral surgery 4.
Ureter Surgery — Ureter surgery is another common surgical treatment that close to half of Prune Belly Syndrome patients receive. In most cases the ureter surgery involves re-implantation.
Cystoplasty — When the bladder is seriously affected bladder reconstruction surgery called cystoplasty may be needed.
Detrusor Augmentation — If the muscles that contract the bladder are weak or inefficient, a surgery known as detrusor augmentation can be done with grafted hip muscles.
Kidney Transplant — Studies have found that approximately 30% of people with Prune Belly Syndrome will need a kidney transplant.
What complications might you expect from Prune Belly Syndrome or treatment of the disease?
Prune Belly Syndrome after surgery should be more manageable.
What Are Prune Belly Syndrome Care Options?
Prune Belly Syndrome is a condition that requires long-term care. Antibiotic therapy is common as a way to prevent urinary tract infections. Regular checkups with a urologist may also be needed as a part of standard care.
The Prognosis for Prune Belly Syndrome
Managing Prune Belly Syndrome after birth is dependent on the parts of the body that are affected and the severity.
Typically, the prognosis is good for moderate to mild cases of PBS. So much so, some people go on to live normal lives save the care they need to reduce the possibility of adverse effects.
Another key factor for prognosis is kidney development. Renal failure is one of the most severe symptoms that can impact life expectancy.
Although PBS is a lifelong disease, many patients state that they have a good quality of life and physical health.
Is There a Cure for Prune Belly Syndrome?
At this time there is no cure for Prune Belly Syndrome, however, there are a number of treatment options.
What Is the Life Expectancy for Prune Belly Syndrome Patients?
As with many other congenital diseases, the life expectancy for prune belly syndrome patients depends on the severity of the condition.
Is Prune Belly Syndrome fatal?
Not always. In some cases, a fetus with PBS is stillborn or the child doesn’t live long after birth, but many people do survive. One study found that the 10-year Prune Belly Syndrome survival rate was 93.7%.
How Long Can You Live With Prune Belly Syndrome?
People with Prune Belly Syndrome can live well into adulthood, some with very few symptoms. It’s not uncommon for teenagers to be diagnosed with Prune Belly Syndrome.
However, follow-up care is needed throughout life in order to control symptoms and treat life-threatening related problems such as kidney failure.
Though it is rare, it is possible for Prune Belly Syndrome in adults to be diagnosed. Case in point, in the 1970s a 54-year-old man was diagnosed with PBS.
Patients have also been known to develop PBS-related symptoms in adulthood. These incidences highlight the fact that many people live relatively normal lives for decades.
If you or your child have been diagnosed with Prune Belly Syndrome it’s important to get support beyond medical treatment. The Prune Belly Syndrome Network 5 is a nonprofit group that provides information and personal connections while advocating for people who have the disease and their family members.
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- Prune belly syndrome
- Patterns of inheritance in familial prune belly syndrome.
Ranjith Ramasamya, Martha Havilandb, John R. Woodardc, Joseph G. Barone, May 2005.
- Genetic Basis of Prune Belly Syndrome: Screening for HNF1β Gene.
Candace F. Granberg, Steven M. Harrison, […], and Linda A. Baker, January 2012.
- The Prune Belly syndrome: urological aspects and long-term outcomes of a rare disease.
Vahudin Zugor, Günter E. Schott, and Apostolos P. Labanaris. April 2012.
- SUPPORT FOR THOSE DEALING WITH PRUNE BELLY SYNDROME / EAGLE-BARRETT SYNDROME