Prune belly syndrome is a rare, genetic

birth defect A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities ca ...

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 The urinary system, also known as the urinary tract or renal system, consists of the kidneys, ureters, bladder, and the urethra. The purpose of the urinary system is to eliminate waste from the body, regulate blood volume and blood pressure, c ...

, 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 The abdomen (colloquially called the belly, tummy, midriff, tucky or stomach) is the part of the body between the thorax (chest) and pelvis, in humans and in other vertebrates. The abdomen is the front part of the abdominal segment of the to ...

of those with the disorder.

Signs and symptoms

Prune-belly triad consists of signs such as:

Cryptorchidism Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of ...

, abdominal wall defects and genitourinary defects: * A partial or complete lack of

abdominal wall In anatomy, the abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the anterolateral and posterior walls. There is a common set of layers covering and forming all the walls: the deepest being the ...

muscles. There may be wrinkly folds of skin covering the abdomen. * Cryptorchidism (undescended testicles) in males * Urinary tract abnormality such as unusually large ureters, distended

bladder The urinary bladder, or simply bladder, is a hollow organ in humans and other vertebrates that stores urine from the kidneys before disposal by urination. In humans the bladder is a distensible organ that sits on the pelvic floor. Urine enters ...

, accumulation and backflow of

urine Urine is a liquid by-product of metabolism in humans and in many other animals. Urine flows from the kidneys through the ureters to the urinary bladder. Urination results in urine being excreted from the body through the urethra. Cellular ...

from the bladder to the ureters and the

kidney The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blo ...

s (

vesicoureteral reflux Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into one or both ureters and then to the renal calyx or kidneys. Urine normally travels in one directio ...

) Other signs include: * Frequent

urinary tract infection A urinary tract infection (UTI) is an infection that affects part of the urinary tract. When it affects the lower urinary tract it is known as a bladder infection (cystitis) and when it affects the upper urinary tract it is known as a kidne ...

s due to the inability to properly expel urine. * Ventricular septal defect * Malrotation of the gut * Club foot * Later in life, a common symptom is post-ejaculatory discomfort. Most likely a bladder spasm, it lasts about two hours. * Musculoskeletal abnormalities include pectus excavatum, scoliosis, and congenital joint dislocations including the hip. Diagnosis of prune belly syndrome necessitates a thorough orthopaedic evaluation because of the high prevalence of associated musculoskeletal abnormalities. *

Pulmonary hypoplasia Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that int ...

pneumonia Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severi ...

, and

atelectasis Atelectasis is the collapse or closure of a lung resulting in reduced or absent gas exchange. It is usually unilateral, affecting part or all of one lung. It is a condition where the alveoli are deflated down to little or no volume, as distinct ...

involving

lung lobes The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of t ...

Complications

Prune belly syndrome can result in distention and enlargement of internal organs such as the bladder and intestines. Surgery is often required but will not return the organs to a normal size. Bladder reductions have shown that the bladder will again stretch to its previous size due to lack of muscle. Complications may also arise from enlarged/malformed kidneys, which may result in

kidney failure Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as eit ...

and the child's going on dialysis or requiring a kidney transplant. Many individuals with prune belly syndrome have good physical and mental health, despite all the concerns. With proper treatment, however, a longer, healthier life is possible.

Diagnosis

Prune belly syndrome can be diagnosed via

ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies ...

while a child is still in-utero. An abnormally large abdominal cavity resembling that of an obese person is the key indicator, as the abdomen swells with the pressure of accumulated urine. In young children, frequent

s often herald prune belly syndrome, as they are normally uncommon. If a problem is suspected, doctors can perform blood tests to check renal function. Another study that may suggest the syndrome is a

voiding cystourethrogram In urology, voiding cystourethrography (VCUG) is a frequently performed technique for visualizing a person's urethra and urinary bladder while the person urinates (voids). It is used in the diagnosis of vesicoureteral reflux (kidney reflux), am ...

. PBS is far more common in males. Autosomal recessive inheritance has been suggested in some cases. A homozygous mutation in the muscarinic cholinergic receptor-3 gene (''CHRM3'') on chromosome 1q43 was reported in one family.

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 often need to undergo an

orchiopexy Orchiopexy (or orchidopexy) is a surgery to move and/or permanently fix a testicle into the scrotum. While orchiopexy typically describes the operation to surgically correct an undescended testicle, it is also used to resolve testicular torsion. ...

to move the testes to their proper place in the

scrotum The scrotum or scrotal sac is an anatomical male reproductive structure located at the base of the penis that consists of a suspended dual-chambered sac of skin and smooth muscle. It is present in most terrestrial male mammals. The scrotum co ...

References

External links

The Journal of Bone & Joint Surgery , Article
{{Medical resources , DiseasesDB = 31089 , ICD10 = {{ICD10, Q, 79, 4, q, 65 , ICD9 = {{ICD9, 756.71 , ICDO = , OMIM = 100100 , MedlinePlus = 001269 , eMedicineSubj = med , eMedicineTopic = 3055 , eMedicine_mult = {{eMedicine2, radio, 575 , MeshID = D011535 Congenital disorders of urinary system Congenital disorders of musculoskeletal system Rare syndromes Medical triads Syndromes affecting the kidneys