Prune belly syndrome
Encyclopedia
Prune belly syndrome is a rare, genetic, birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system
, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen
s of those with the disorder. Other names for the syndrome include Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Eagle-Barrett Syndrome, Obrinsky Syndrome, Fröhlich Syndrome, or rarely, Triad Syndrome.
while a child is still in-utero. An abnormally large abdominal mass is the key indicator, as the abdomen swells with the pressure of accumulated urine. In young children, frequent urinary tract infection
s often herald prune belly syndrome, as they are normally uncommon. If a problem is suspected, doctors can perform blood tests to check kidney function. Another test that may reveal the syndrome is the voiding cystourethrogram
.
A genetic predisposition has been suggested, and PBS is much more common when the baby is a twin, although all reported twin births have been discordant.
, which moves the testicles to their proper place in the scrotum
.
Even with treatment, many patients experience renal failure
.
Urinary system
The urinary system is the organ system that produces, stores, and eliminates urine. In humans it includes two kidneys, two ureters, the bladder and the urethra.-Kidney:...
, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen
Abdomen
In vertebrates such as mammals the abdomen constitutes the part of the body between the thorax and pelvis. The region enclosed by the abdomen is termed the abdominal cavity...
s of those with the disorder. Other names for the syndrome include Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Eagle-Barrett Syndrome, Obrinsky Syndrome, Fröhlich Syndrome, or rarely, Triad Syndrome.
Symptoms
- A partial or complete lack of abdominal muscleAbdomenIn vertebrates such as mammals the abdomen constitutes the part of the body between the thorax and pelvis. The region enclosed by the abdomen is termed the abdominal cavity...
s. There may be wrinkly folds of skin covering the abdomen. - Undescended testicles in males
- Urinary tract abnormality such as unusually large ureterUreterIn human anatomy, the ureters are muscular tubes that propel urine from the kidneys to the urinary bladder. In the adult, the ureters are usually long and ~3-4 mm in diameter....
s, distended bladderUrinary bladderThe urinary bladder is the organ that collects urine excreted by the kidneys before disposal by urination. A hollow muscular, and distensible organ, the bladder sits on the pelvic floor...
, accumulation and backflow of urineUrineUrine is a typically sterile liquid by-product of the body that is secreted by the kidneys through a process called urination and excreted through the urethra. Cellular metabolism generates numerous by-products, many rich in nitrogen, that require elimination from the bloodstream...
from the bladder to the ureters and the kidneyKidneyThe kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
s - Frequent urinary tract infectionUrinary tract infectionA urinary tract infection is a bacterial infection that affects any part of the urinary tract. Symptoms include frequent feeling and/or need to urinate, pain during urination, and cloudy urine. The main causal agent is Escherichia coli...
s due to the inability to properly expel urine. - Later in life, a common symptom is after-sex discomfort. Most likely a bladder spasm, it lasts about two hours.
Diagnosis
Prune belly syndrome can be diagnosed via ultrasoundMedical ultrasonography
Diagnostic sonography is an ultrasound-based diagnostic imaging technique used for visualizing subcutaneous body structures including tendons, muscles, joints, vessels and internal organs for possible pathology or lesions...
while a child is still in-utero. An abnormally large abdominal mass is the key indicator, as the abdomen swells with the pressure of accumulated urine. In young children, frequent urinary tract infection
Urinary tract infection
A urinary tract infection is a bacterial infection that affects any part of the urinary tract. Symptoms include frequent feeling and/or need to urinate, pain during urination, and cloudy urine. The main causal agent is Escherichia coli...
s often herald prune belly syndrome, as they are normally uncommon. If a problem is suspected, doctors can perform blood tests to check kidney function. Another test that may reveal the syndrome is the voiding cystourethrogram
Voiding cystourethrogram
In urology, a voiding cystourethrogram , also micturating cystourethrogram , is a technique for watching a person's urethra and urinary bladder while the person urinates . The technique consists of catheterizing the person in order to fill the bladder with a radiocontrast agent, typically cystografin...
.
A genetic predisposition has been suggested, and PBS is much more common when the baby is a twin, although all reported twin births have been discordant.
Complications
Prune belly syndrome can result in the distending and enlarging of internal organs such as the bladder and intestines. Surgery is often required to return these organs to their natural sizes.Treatment
The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a vesicostomy, which allows the bladder to drain through a small hole in the abdomen, thus helping to prevent urinary tract infections. Similarly, consistent self catheterization, often several times per day, can be an effective approach to preventing infections. A more drastic procedure is a surgical "remodeling" of the abdominal wall and urinary tract. Boys may have an orchiopexyOrchiopexy
Orchiopexy is a surgery to move an undescended testicle into the scrotum and permanently fix it there. It is performed by a pediatric urologist or surgeon on boys with cryptorchidism, typically before they reach the age of two...
, which moves the testicles to their proper place in the scrotum
Scrotum
In some male mammals the scrotum is a dual-chambered protuberance of skin and muscle containing the testicles and divided by a septum. It is an extension of the perineum, and is located between the penis and anus. In humans and some other mammals, the base of the scrotum becomes covered with curly...
.
Even with treatment, many patients experience renal failure
Renal failure
Renal failure or kidney failure describes a medical condition in which the kidneys fail to adequately filter toxins and waste products from the blood...
.
External links
- http://www.prunebelly.org/#/what-is-pbs from the Prune Belly Syndrome Network