Diseases and Surgical Procedures

Prune Belly (Long version)

In 1839, Frölich first described prune belly syndrome (PBS), and Osler gave the condition its name. Prune belly syndrome is also called Eagle-Barrett syndrome and triad syndrome.

The treatment of prune belly syndrome poses a significant problem to pediatric urologists. Some authors call for conservative management of the urinary tract in boys with prune belly syndrome, while others advocate an aggressive approach, operating on patients aged 10 days.

No definitive timing for treatment of prune belly syndrome has been substantiated. Pediatric urologists have observed that boys with prune belly syndrome can present with a spectrum of abnormalities. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than orchiopexy/orchidopexy to correct the undescended testis. The decision to aggressively treat the urinary tract in these children should be based on the clinical presentation and not solely on radiographic appearance.

Problem

Children with prune belly syndrome can present with myriad renal, ureteral, and urethral abnormalities. Obstruction and/or upper urinary tract dilatation is not unusual in these children. The site of obstruction can vary from as high as the pelviureteral junction to as low as the prostatic membranous urethra.

A lack of abdominal muscles leads to a poor cough mechanism, which, in turn, leads to increased pulmonary secretions. Weak abdominal muscles lead to constipation because of an inability to perform the Valsalva maneuver, which helps push the stool out of the rectum during defecation.

The mortality rate associated with prune belly syndrome is 20%.

Frequency

Prune belly syndrome affects 1 per 30,000-40,000 live births. Approximately 3-4% of all prune belly syndrome cases occur in females. Twinning is associated with prune belly syndrome; 4% of all cases are products of twin pregnancies.

Etiology

Prune belly syndrome is associated with trisomy 18 and 21. Patients with prune belly syndrome also have an increased incidence of tetralogy of Fallot (TF) and ventriculoseptal defects.

Pathophysiology

In 1903, Strumme proposed that prune belly syndrome may be caused by in utero bladder obstruction, stating that dilatation of the urinary tract in utero leads to secondary-pressure atrophy of the abdominal wall and the subsequent clinical findings. More recent theories focus on a functional obstruction due to prostatic hypoplasia that leads to a conformational change in the prostatic urethra during voiding, thereby causing obstruction. The most recent theories suggest a transient obstruction at the junction of the glanular and penile urethra. This would explain the high incidence of megalourethra observed in cases of prune belly syndrome.

Considering the recent knowledge regarding high-pressure voiding and reflux, the theories involving urethral abnormalities can also explain the upper tract deformities that this syndrome can cause. High-pressure voiding has been discovered to lead to reflux in patients without prune belly syndrome. The obstructive process that occurs may impart a similar effect that mimics the dyssynergic voiding in persons with reflux. This high-pressure voiding thereby leads to changes in the location of the ureter, as well as the deleterious effects of the water-hammer effect on the renal tissue. Therefore, this abnormal high-pressure voiding process could explain reflux that is encountered along with renal dysplasia. The overdistended bladder could result in the abnormal development of the abdominal wall musculature and prevent the descent of the testis.

The histopathology of the abdominal wall muscles demonstrates a pattern of developmental arrest rather than one of atrophy. This is also suggested by a lack of any aponeurotic layers.

Fetal ascites, which may be transient because the urine is reabsorbed before birth, may explain the abdominal wall defects.

The prevailing theory is mesodermal arrest, which would explain the involvement of the genitourinary tract, the testis, and the abdominal wall. A noxious insult would have to occur between the 6th and 10th weeks of gestation. Some place the insult at 3 weeks of embryogenesis, which may explain the prostatic hypoplasia and poor glandular development. The mesodermal arrest theory is supported by the histologic findings in the abdominal wall, the urinary tract, and the male genital system. The abundance of fibrous tissue, collagen, and connective tissue with sparsely placed smooth muscle throughout the urinary tract indicates more of a mesodermal differentiation problem than one of obstruction.

The yolk-sac theory is based on the overdevelopment of the allantoic diverticulum that grows out from the yolk sac contiguous with the body stalk. If it becomes enlarged, it is incorporated into the urinary tract as a redundant enlarged urachus, bladder, and prostatic urethra. Unfortunately, this theory does not explain the abnormalities in the development of the upper urinary tract or male genital tract.

Presentation

Pseudo–prune belly syndrome

Pseudo–prune belly syndrome, which is associated with prune belly syndrome uropathy, is characterized by normal abdominal wall examination findings and incomplete or absent cryptorchidism. In a study of 8 patients with this syndrome, 5 (63%) eventually developed renal failure.

Prune belly–like variant

An abdominal wall defect commonly confused with prune belly syndrome has been termed prune belly–like variant. Some studies have reported abdominal wall defects without urologic anomalies. This defect involves only the abdominal wall muscles, in particular the internal and external obliques, as well as the transversalis muscles. In contrast with prune belly syndrome, the rectus muscles are not involved.

This defect causes weakness laterally, with bulging of the abdominal wall just below the rib cage. In such cases, CT scans of the abdominal wall reveal preservation of the rectus and obliques away from the area. The authors have surgically reconstructed two such defects in young male patients using a laparoscopic modification of the Firlit procedure, with excellent results. This syndrome may be associated with in utero distention of the abdominal cavity.

Indications

Urethral obstruction should be addressed as soon as it is recognized. Progressive urethral dilation, as described by Passerini-Glazel et al, is the preferred method of treatment. Vesicostomy can also be an effective method of temporary diversion.

The literature contains little controversy regarding management of undescended testes in these children. If controversy or confusion arises, it concerns the optimal timing for the orchidopexy and which type of orchidopexy should be performed.

The management of the abdominal wall abnormalities is somewhat controversial. Some prefer no surgical reconstruction of the abdominal wall, while others advocate surgical reconstruction. The group that advocates surgical reconstruction is divided into 2 separate factions that support different techniques of abdominal wall reconstruction. The use of a rectus muscle transfer flap to the abdominal wall combined with an abdominal wall plication procedure can help ameliorate some of the back strain in many of these patients.

Reconstruction of the urinary tract also is controversial; some advocate prompt reconstruction, while others advocate a more passive approach and operate when necessary. Prune belly syndrome is characterized by elongated, dilated, and tortuous megaureters, which affect 81% of patients. Vesicoureteral reflux is common in these patients. Advocates of conservative treatment argue that, in a nonobstructive system with present suppressive therapy, intervention is not necessary. Those who argue for aggressive therapy in patients with prune belly syndrome point to Waldbaum and Marshall's review of 56 patients, in which 70% died and 16% were gravely ill. Waldbaum and Marshall also argue for aggressive therapy when they point out that, "the purpose of the upper tract is to transport urine, not to store it."

Even with aggressive antibiotic therapy, urinary stasis and repeat infections may lead to inevitable loss of renal function. Regardless, ureteral reimplantation in patients with prune belly syndrome can be difficult and is frequently fraught with complications. To attest to this, the author has seen several patients who have previously undergone reimplantation but then developed ureteral strictures of the distal reimplanted ureters and required another reimplantation. Furthermore, reports in the literature have documented ureteral stenosis rates of up to 40% in tapered ureters.

Relevant Anatomy

Infravesical obstruction or obstruction at the prostatic urethra was originally thought to be due to a type I posterior urethral valve. This theory has been replaced by a new notion that the obstruction may be caused by severe angulation at the prostatic and membranous urethral junction. This may be due to a lack of striated muscle in the membranous urethra or urogenital diaphragm or a ring of obstructive tissue acting as a flap valve due to hypoplasia of the prostate, creating a ballooning of the prostatic urethra.

In these patients, studies have also shown that the smooth muscle in the prostate is reduced and the connective tissue content is increased, which may lead to a functional obstruction. This abnormality in the prostatic urethra can be similar to a valve created by anterior urethral diverticulum. Douglas Stephens describes this configuration as a type IV valve in patients with prune belly syndrome, in which the dilated prostatic urethra joins the membranous urethra in various configurations that cause obstruction. However, these theories have not been supported by urodynamic studies, which fail to demonstrate either mechanical or functional outlet obstruction in most cases.

Recent studies indicate that the more distal lower ureter is abnormal in several ways, while the more proximal portion of the ureter is more anatomically normal. Histologically, the ureter has a smooth muscle deficiency with fibrous degeneration and a poor blood supply. In addition, a decrease in nerve plexuses is reported, with irregularity in degeneration of nonmyelinated Schwann fibers.

Herniation of the bladder is prevalent in patients with prune belly syndrome because the bladder is large and redundant. Patients with urethral obstruction commonly have a patent urachus, which enables the patient to survive; early deaths usually occur in those with urethral obstruction who do not have a patent urachus.

Some patients with prune belly syndrome have posterior urethral valves.

Prune belly syndrome is characterized by elongated, dilated, and tortuous megaureters, which affect 81% of patients.

Typically, patients with prune belly syndrome have megacystis. The bladder is routinely enlarged, although trabeculations are rarely present and muscular hypertrophy is inconsistent. The bladder can be fixed to the umbilicus via urachus, giving it an hourglass configuration radiographically. Bladder-voiding pressures are frequently near-normal, and residual urine volume is insignificant. Snyder et al describe a typical shift to the right, and some patients with prune belly syndrome can void normally. Some authors feel that reduction cystoplasty can improve detrusor force. Some feel that the shape of the bladder in patients with prune belly syndrome can lead to unbalanced voiding and that a decreased bladder capacity would lead to increased detrusor efficiency based on Laplace law.

Anterior urethral abnormalities, which range from urethral atresia to megalourethra, are common in patients with prune belly syndrome. Patients who survive urethral atresia or microurethra have a patent urachus. Both scaphoid and fusiform megalourethra are associated with prune belly syndrome. The fusiform type is associated with deficient corpora cavernosa and more severe renal defects. Scaphoid megalourethra is associated with deficiency of the corpus spongiosum with a normal glans and fossa navicularis. The mesenchymal developmental arrest, which accounts for the major features of the syndrome, may also explain the urethral abnormalities.

Orthopedic anomalies are common and can affect 50% of patients. Scoliosis and congenital hip dislocations are common. Abnormalities associated with oligohydramnios also are observed.

Cardiac anomalies are reported in 10% of patients.

Alhawsawi et al (2009) reported a hepatic arterial aneurysm in a patient with prune belly syndrome. This is a rare defect that may be associated with inflammation or trauma to the arteries of the liver. Atherosclerosis, arthritis, and collagen vascular disease are the most common etiologies of inflammation that result in such aneurysms. The authors postulate that the mesodermal defect may account for the aneurysm.4

Gastrointestinal abnormalities, which include malrotation, atresia, stenosis, and volvulus, affect 30% of patients. All may be due to a persistence of the embryonic wide mesentery, with absent fixation to the posterior abdominal wall. The same defect allows the spleen to wander widely and can lead to splenic torsion. Imperforate anus, anorectal agenesis, omphalocele, and gastroschisis are uncommon but have been reported. Chronic constipation has been attributed to a decrease in abdominal wall pressure, which is necessary to aid in evacuation.

Workup

Laboratory Studies

Obtain a sequential multiple analysis (SMA-6; ie, 6 different serum tests and creatinine tests to evaluate renal function in a serial fashion) because many children with prune belly syndrome may have renal compromise.

Urinary output and electrolytes must be carefully observed in newborns. A rise in BUN and creatinine levels associated with decreased urine output indicates obstruction.

Imaging Studies

Careful radiologic evaluation is essential before committing to any type of diverting procedure.

Radiologic studies should be performed in the newborn period, regardless of whether obstruction is present.

Kidney, ureter, and bladder (KUB) test findings can usually be used for diagnosis based on the typical appearance of the bowels hanging over the lateral edge of the abdominal wall.Enlarged bladder

The first study that should be performed is renal and bladder ultrasonography, which is a noninvasive procedure and can be used later to noninvasively monitor the child's progress.

Perform ultrasonography of the kidneys as early as possible to evaluate the upper tracts.

Renal scan is necessary after renal function stabilizes to evaluate renal function and drainage.

Contrast voiding cystourethrography (VCUG) should be performed.

VCUG is used to delineate the prostate-membranous urethra and the bladder and to detect the presence of an urachal remnant. In addition, the patient is evaluated for vesicoureteral reflux. Patients with vesicoureteral reflux are placed on antibiotic prophylaxis.

Upon evidence of upper-tract dilatation or obstruction, a renal Hippuran or diethylenetriamine pentaacetic acid (DTPA) study should be performed.Bladder reflux

Children with only megaureter, megacystis, and the prostatic abnormalities who have no evidence of obstruction or reflux can be managed conservatively with close observation.

VCUG is necessary to evaluate the bladder size. In addition, urethral stenosis must be ruled out immediately. The presence of a patent urachus is a hint that stenosis is present. The degree and extent of reflux is assessed with this study.

Treatment

Medical Therapy

Children with prune belly syndrome who have reflux should receive maintenance suppressive antibiotics. Some believe that surgical intervention is not warranted in these patients as long as they remain free of infection. Once infections start occurring frequently, the reflux should be corrected.

Management of the undescended testis with human chorionic gonadotropin (hCG) is not warranted in these cases. The literature clearly shows that hCG for the management of intra-abdominal testis is useless.

Surgical Therapy
Undescended testis

Management of undescended testis in a patient with prune belly syndrome should be left to the experienced pediatric urologist. In some instances, patients with undescended testis do not require any urologic work and the testis can be brought down using laparoscopic techniques. The laparoscopic technique reduces the morbidity associated with intra-abdominal surgery. The author has performed reconstructive surgery in several patients using this technique, with superior results. In other cases, the testis can be brought down during open surgery for the reconstruction of the urinary tract.

Abdominal wall reconstruction

Abdominal wall reconstruction is performed in most patients with prune belly syndrome to improve respiratory function and to improve cosmesis.Abdominal wall repair 10-year old boy Several innovations in abdominal wall reconstruction have been developed. The Monfort and Ehrlich variations of the Randolph operation have improved results, with decreased morbidity and the ability to preserve the umbilicus. Furness et al have described a new technique that allows for improved results over other techniques, without opening the abdominal cavity. Most recently, Franco modified this technique further to obtain even better results by using laparoscopic guidance to ensure that wall tension and cosmetic results persist postoperatively.8 These innovations have significantly reduced the morbidity of abdominal wall reconstruction.

Placement of a percutaneous nephrostomy

Obstruction at the ureteropelvic junction (UPJ) has been observed in patients with prune belly syndrome. In some cases, diagnosing this can be difficult; however, the diagnosis can be confirmed with the placement of a percutaneous nephrostomy. This procedure can be performed under ultrasound guidance with relative ease in a dilated system and provides the opportunity to perform a renal biopsy, which could help with the later management of the urinary tract.

Placement of a percutaneous nephrostomy provides the surgeon with several options. The surgeon can confirm the diagnosis of UPJ obstruction. The urinary tract can be decompressed in an ill child or in a child who is too small to safely undergo reconstructive surgery at the time. Finally, the technique also allows the surgeon to evaluate the renal function of the obstructed unit.

Standard pyeloplasty

If conditions are right and the child is stable, a standard pyeloplasty can be performed as another means of treating the obstructed UPJ. The surgeon should be meticulous in the dissection of the upper ureter. The proximal ureteral blood supply should be preserved as much as possible in case ureteral tapering or reimplantation becomes necessary later.

Recent studies indicate that the more distal lower ureter is abnormal in several ways, while the more proximal portion of the ureter is more anatomically normal. Histologically, the ureter has a smooth muscle deficiency with fibrous degeneration and a poor blood supply. In addition, a decrease in nerve plexuses is reported, with irregularity in degeneration of nonmyelinated Schwann fibers.

In patients who may have supravesical obstruction and functional vesical obstruction, cutaneous pyelostomy has been recommended as the preferred means of diverting the ureter and the pelvis for several reasons. The proximal ureter is believed to less compromised with this procedure than with a high-loop ureterostomy, as had been performed previously. In addition, by performing a pyelostomy, surgeons avoid the undesirable attachment of the ureters to the abdominal wall, thereby preventing the common problem of a prolapsed ureterostomy. When ureterostomy is performed, the distal ureter is typically used because this ureter would most likely be discarded when the reconstruction is performed.

Cutaneous pyelostomy still carries the risk of resultant scarring from excessive dissection, which may be required to take down the pyelostomy at a later stage. At the time of reconstruction, ureteral tapering or reimplantation that is necessary creates a difficult situation. Recently, these problems have been overcome with the increasing use of percutaneous nephrostomy drainage and with the use of vesicostomy as a means of draining the upper tracts. Some believe that vesicostomy can decompress the upper tracts just as well as high diversion. Subsequently, since the introduction of these 2 procedures, the use of high diversion has declined significantly over the last few years, and reconstruction in these patients has become easier.

Infravesical obstruction or obstruction at the prostatic urethra

Patients with documented obstruction can be treated with several means.

Blocksom vesicostomy performed in the early newborn period is the simplest and best treatment in patients with documented obstruction. Bringing the dome of the bladder out to the skin is essential when creating the vesicostomy; this approach prevents the resultant herniation of the bladder in an improperly created vesicostomy.

Herniation of the bladder is quite prevalent in patients with prune belly syndrome because the bladder is quite large and redundant. A patent urachus can be found frequently in patients with urethral obstruction. The patent urachus is the means by which patients are able to survive; early deaths usually are observed in patients with urethral obstruction without a patent urachus. In these patients, once a vesicostomy is performed, the surgeon should try to identify the urachus and ligate it at that time.

Some patients with prune belly syndrome have posterior urethral valves, and the valves are best managed with transurethral resection. Some advocate the use of sphincterotomy, transurethral resection of the bladder neck, or internal urethrotomy to manage the functionally obstructed system. Snyder and associates believe that judicious use of urethrotomy can lower urethral resistance and improve voiding dynamics without causing incontinence. Opinions are mixed regarding the use of these modalities because few actual results have been seen. Passerini-Glazel et al used soft catheter dilatation to dilate the functionally obstructed urethra in patients with prune belly syndrome. They left soft indwelling catheters for extended periods while they gradually increased the size of the catheter until they achieved the desired caliber. Radiologic and functional results are needed.

Ureteral reimplantation in patients with megaureters, reflux, and a ureteral transplant requires an aggressive approach; as much of the abnormal distal ureter as possible should be removed and the blood supply to the proximal ureter should be preserved. Some authors advocate shortening, tapering, and reimplanting the better of the 2 ureters with a long tunnel and psoas hitch and draining the contralateral side with a transureteroureterostomy (TUU). These authors reason that the bladder may be thick and fibrous in patients with prune belly syndrome, thereby complicating placement 2 good long reimplants. Ureters are preferentially tapered over an 8F or 10F red rubber catheter and excess tissue is excised. Most recently, Starr has reimplanted the ureter using the folding cross-reimplantation. He has not reported obstruction or reflux. This technique may prevent interruption of the critical blood supply to the distal ureter; this is not possible with traditional excisions.

In patients with megacystitis, reduction cystoplasty has met with mixed reviews. Reduction cystoplasty is generally recognized to be unnecessary as a primary procedure but may be useful and is frequently performed at the time of ureteral reimplantation and tapering.

Preoperative Details

Preoperatively, all patients should have stable respiration. This is critical because postoperative respiratory infections pose a serious risk to these patients.

The urine should be sterile prior to surgery.

In patients undergoing abdominal wall reconstruction, the presence of a peg gastrostomy precludes the safe reconstruction of the abdominal wall. The author prefers to not have a gastrostomy in place before abdominal wall reconstruction.

Intraoperative Details

The most critical factor that must be watched during surgery in patients with prune belly syndrome is airway pressure during abdominal wall reconstruction. If the abdomen is tightened too much, the patient may not be able to breathe spontaneously after surgery. Airway pressures should be noted early in treatment, and these pressures should be maintained while the abdomen is closed.

During tapering of the ureter, careful dissection of the blood supply of the ureter is essential.

During laparoscopic surgery, the trocars need to be held in place with sutures to anchor them to the abdominal wall to prevent slippage and increased carbon dioxide loss. In addition, the umbilical trocar should be placed on the superior margin of the umbilicus to prevent penetration of the bladder or the urachal remnant.

Postoperative Details

Postoperatively, these patients must be monitored closely. They can easily become fatigued and may experience respiratory arrest. Judicious use of narcotics is critical, and the use of ketorolac (Toradol) is recommended for postoperative pain control. The author has also used postoperative epidural anesthesia, with excellent results.

Follow-up

Follow-up care depends on the procedure performed.

Complications
Undescended testis

The most obvious complication of orchidopexy is incomplete descent of the testis. Atrophy of the testis is another possible complication. This can occur in some cases (as many as 50%) of Fowler-Stephens orchidopexy. For this reason, the author does not suggest performing simultaneous Fowler-Stephens orchidopexies.

Abdominal wall reconstruction

After reconstruction, persistent laxity of the abdominal wall is a concern, regardless of the technique used. Using the laparoscope to perform the abdominal wall plication significantly reduces the risk of this complication.

The abdominal wall skin can slough when the skin flaps are raised. Care should be taken to avoid incisions that cut the blood supply to the flaps.

Ureteral reimplants

Ureteral strictures are not uncommon in tapered reimplants of ureters in patients with prune belly syndrome. This can be avoided using Kaliscinski-type tapering of the ureters.

Outcome and Prognosis

The prognosis in patients with prune belly syndrome varies. The spectrum runs from stillbirth to undescended testicles with a minimal degree of abdominal wall laxity.

The authors conducted an anonymous Internet- and postal-based survey of the members of the Prune Belly Syndrome Network, which is a nonprofit organization dedicated to the support of patients with prune belly syndrome. The survey was designed to query adult patients with prune belly syndrome regarding physical, social, and sexual aspects of their lives. General health–related quality of life was assessed with the RAND 36-Item Health Survey 1.0 (SF-36), which is a self-administered 36-item questionnaire that was designed to evaluate and to quantify general health–related quality of life based on 8 scales to rate physical function, role limitations due to physical problems, social functioning, pain, emotional well-being, role limitations due to emotional problems, energy/fatigue, and general health perceptions.

The SF-36 has been widely tested and validated. Each of the 8 scales is scored from 0-100, with a higher score representing a better outcome. The scores themselves have been scaled such that they can be compared with scores from a general US adult population cohort without a chronic medical illness. The average score in the general population is 50.

General questions were asked regarding the number and types of surgeries the respondents had undergone. A current medication profile was obtained. The survey included items pertaining to educational and employment achievements, as well as to participation in various types of physical activities.

The Brief Male Sexual Inventory (BMSI) scale assessed sexual quality of life and sexual function. This questionnaire is an 11-item instrument designed to evaluate sexual drive, erection, ejaculation, and perceptions of problems in these areas, as well as overall sexual satisfaction. Additional questions were asked regarding patient fertility and whether they had children (biological or adopted).

The authors received responses to the survey from 23 patients (20 men, 3 women); the mean age was 32 years (range, 14-62 y). All 20 men surveyed acknowledged a history of undescended testicles. Twelve of these men had undergone some form of orchidopexy. Four men who reported having undergone orchidopexy also reported having undergone unilateral or bilateral orchiectomy. Two men who had not undergone orchidopexy underwent at least one orchiectomy. Fourteen of the 23 respondents reported a history of vesicoureteral reflux. Eleven of these persons went on to undergo some form of ureteral reimplantation. Eight patients went on to undergo at least one nephrectomy. Seven patients (6 men, 1 woman) have had renal failure and have undergone renal transplantation (mean age at the time of survey, 36.3 y).

Four patients acknowledged having undergone some form of abdominal wall reconstruction for their muscle laxity. Three patients reported wearing a scoliosis-type brace, presumably as a noninvasive means of affording abdominal wall support.

Health-related quality of life was determined based on the SF-36. Twenty-two patients responded to the SF-36 portion of the questionnaire. The scores were scaled so that they may be compared with a standard reference population of US adults. The average domain score in the standard population is 50. Above-average scale scores were reported for physical function (13/22), lack of limitations due to physical problems (14/22), lack of limitations due to emotional problems (16/22), energy (15/22), mental health/sense of emotional well-being (15/22), social function (14/22), bodily pain (13/22), and general health perceptions (8/22) versus established norms for the standard population. The 7 patients who required renal transplantation had significantly lower scores (P <.05, Student's T-test) on scales of physical function, general health perceptions, social function, and mental health compared with patients who did not require renal transplantation.

Eighteen patients (16 men, 2 women) responded to the BMSI. Eight of the 16 men noted in their responses that they either have retrograde ejaculation or are anejaculatory. Only 2 of these men reported this as bothersome. Twelve respondents (11 men, 1 woman) reported that they are mostly or very satisfied with their sex lives.

Six respondents (5 men, 1 woman) reported having used artificial reproductive techniques to attempt conception. Three of the male patients reported having children secondary to artificial reproductive techniques. Two of the men fathered children with their own sperm and some form of artificial insemination. Both of these men had undergone some form of undescended testis surgery. One man's wife conceived with the use of donor sperm and artificial insemination.

Twenty-two of those surveyed responded to questions regarding employment status. Of these, 3 are unemployed, 3 are retired, 3 are full-time students, and 13 are currently employed.

Two of the respondents are currently in high school, 2 are in college, 2 did not finish high school, 6 received a high school or equivalency diploma, 7 have a bachelor's or associate's degree, and 3 have a Master's degree.

Prune belly syndrome, along with its associated long-term medical issues, does not necessarily result in long-term perceived physical, psychosocial, or sexual distress or problems. The vast majority of the patients who responded to the authors' survey seemed to function physically and emotionally at levels as high or higher than the standard normative study population on the SF-36. Interestingly, perceived levels of general health were, for the most part, lower than the levels reported by the standard normative study population on the SF-36.

The differences between the authors' study group and the standard population are all the more striking considering the patients who underwent renal transplantation. Only 1 of 7 transplant recipients reported a general health scale score higher than that of the normative population, whereas 7 of 15 respondents who did not require a transplantation reported a higher general health scale score than the normative population (P <.05, Student's T-test). This finding corresponds with the general trend that patients who require renal transplantation are not as healthy overall as those who do not need renal replacement. These differences were also significant on the physical function, social function, and mental health scales.

The authors were somewhat surprised that only 14 men had undergone some type of testis surgery (orchidopexy alone, 8; orchidopexy and orchiectomy, 4; orchiectomy alone, 2) considering that all men reported having a history of undescended testicles. Two men (ages 49 and 53 y) had bilateral intraabdominal testicles and underwent bilateral orchiectomies. One of these men is currently taking testosterone supplementation. Conceivably, orchidopexy may not have been attempted due to unavailability of a surgeon with orchidopexy expertise for intraabdominal testes or due to the belief at that time that fertility was impossible in these patients.

Two men had attempted orchidopexy followed by orchiectomy. One man reported having undergone bilateral orchiectomies after attempted orchidopexy for bilateral intraabdominal testicles. He is taking testosterone supplementation. Another patient reported having had one testicle removed after failed orchidopexy. His other testis is intrascrotal. Nine of the 12 men in the orchidopexy group report having one or both testicles in the scrotum. Of the remaining men, one man has palpable pubic testicles, one still has bilateral intraabdominal testicles, and one man underwent bilateral orchiectomies after failed orchidopexy.

Four of the 6 men who have not undergone testicular surgery reported having bilateral intraabdominal testis. All of these men are postpubertal (age range 29-47 y). The literature quotes at least 4 cases of germ cell malignancy in patients with prune belly syndrome. The authors do not know how these men are being monitored for potential malignancy.

At one time, all patients with prune belly syndrome were believed to be infertile. All men with prune belly syndrome seen by Woodhouse et al were found to have Sertoli cell–only patterns on their testicular biopsy samples. Massad et al found germ cells present, but abnormal, in testis biopsy samples of children younger than 1 year with prune belly syndrome. Woodard et al reported viable sperm in the postejaculate urine in a patient who had undergone orchidopexy as a young child.

With advances in assisted reproductive technologies come reports of sperm retrieval and intracytoplasmic sperm injection in patients with prune belly syndrome. Five of the authors' male respondents tried some means of assisted reproductive with sperm retrieval and artificial insemination. Two of these men have successfully fathered children.

Given that some men with prune belly syndrome seem to be capable of fathering children, albeit with the help of assisted reproductive technologies, surgery should be attempted early in patients with prune belly syndrome to preserve fertility. Using current techniques, laparoscopic orchidopexy is apparently an ideal treatment for intraabdominal testis in persons with prune belly syndrome.

Intuitively, with intact Leydig cell function, men with prune belly syndrome should have normal testosterone levels and, therefore, a normal libido. Woodard reported that, following puberty, the average serum testosterone level was higher in patients with prune belly syndrome following prepubertal rather than postpubertal orchidopexy. Erection and orgasm are apparently normal. However, retrograde ejaculation secondary to prostatic hypoplasia and an open bladder neck is common. This reported finding was also seen in the authors' patients. Despite findings of retrograde ejaculation and difficulties with fertility, 11 of 16 men who responded were mostly or very satisfied with their sex lives.

Repair of the abdominal wall defect (from which prune belly syndrome derives its name) should be considered to be not only cosmetic but also potentially functional. Smith et al reported improvement in voiding function in patients with prune belly syndrome after abdominal wall reconstruction. Woodard and colleagues reported improved pulmonary function after abdominal wall placation. Therefore, surprisingly, only 4 patients had undergone some form of abdominal wall reconstruction. If an external support device can be considered as tantamount to a noninvasive approach to abdominal wall management, more than two thirds of those surveyed did not undergo definitive treatment of their abdominal wall defect.

Prune belly syndrome presents with a wide spectrum of severity. Seven of the authors' patients (30%) ultimately required renal transplantation. This number parallels previous estimates regarding the development of renal failure in this population. Noh et al found several factors as prognostic for renal failure, including bilateral abnormal kidneys revealed by imaging studies, nadir serum creatinine levels of greater than 0.7 mg/dL, and clinical pyelonephritis. The authors did not ask about these factors in their survey. Of their patients who went on to undergo transplantation, 4 had undergone some form of ureteral reimplantation, 4 had undergone vesicostomy (3) or suprapubic tube (1), and one had an ileal conduit. The role of extensive urinary tract reconstruction in patients with prune belly syndrome is controversial. The authors do not know the chronology of when lower urinary tract reconstructions were attempted relative to the onset of renal failure.

The findings in the authors' study seem to indicate that adults with prune belly syndrome are happy and well-adjusted and are participating in conventional physical, sexual, emotional, educational, and employment roles.

The authors' study has limitations. The data represent the responses of only 23 adults with prune belly syndrome. Whether a larger sample size would have altered the outcome is unknown. Additionally, the BMSI is not specifically designed or validated to answer questions about female sexuality. A questionnaire designed to address female sexuality may have been better to include.

In conclusion, many individuals with prune belly syndrome appear to function at a high level, with good health-related quality of life and good social and sexual function. Persons who require renal transplantation score significantly lower on many indices of health-related quality of life. Artificial reproductive technology appears to be required to conceive children but is possible, contrary to prior beliefs.

Future and Controversies

Persistent advances in laparoscopic surgery may continue to improve the outlook for patients with prune belly syndrome. As more is learned about the natural history of obstructive uropathy, treatment of this condition will be adjusted to offer the most benefit with the least amount of intervention. Whether to institute aggressive early intervention or no intervention will continue to be debated the true pathophysiology of prune belly syndrome is completely understood.

The fact that a decreasing number of patients are being born with prune belly syndrome indicates an ever-increasing ability to diagnose the disease in utero. In utero intervention with vesicoamniotic shunting has had little effect in reducing the incidence of renal failure and the need for transplantation in this group of patients. Expertise in treatment will eventually be limited to only a small number of experts. In the future, patients with prune belly syndrome will need to consider obtaining care from such specialized centers.

Author: Israel Franco, MD, FAAP, FACS, Associate Professor, Department of Urology, Division of Pediatric Urology, New York Medical College; Director of Pediatric Urology, Lincoln Hospital and Medical Center
Article from eMedicine.medscape.com