Kidney function and transplants in prune belly syndrome: a scoping review.

BACKGROUND: Children with prune belly syndrome (PBS) are at higher risk of developing kidney dysfunction and requiring kidney replacement therapy (KRT). While studies have described surgical and survival outcomes in these populations, there has yet to be a focused synthesis of evidence regarding kidney outcomes in this population. Here, the focus of this scoping review was to highlight knowledge gaps and report standards on kidney outcomes in PBS of all ages. METHODS: Following scoping review methodology, EMBASE, MEDLINE, and Scopus were searched for peer-reviewed literature that describe kidney outcomes in PBS. All studies with a broad set of kidney outcomes (such as kidney function measures, chronic kidney disease (CKD), KRT and associated outcomes) were included. Findings were summarized and qualitatively synthesized. RESULTS: Of the 436 unique records identified, 25 were included for synthesis. A total of 17 studies (441 patients) reported on kidney insufficiency outcomes, with an estimated prevalence of CKD ranging from 8 to 66%. A total of 15 studies (314 patients) described KRT, primary kidney transplant, and outcomes. Of these, the age for KRT ranged from 4 to 21 years, and graft survival ranged from 22 to 87% by last follow-up (range 1.3-27 years). CONCLUSIONS: There is significant variability in studies reporting kidney outcomes in PBS which limits meaningful synthesis. There is a need for future studies with comprehensive reporting of confounders and drivers for kidney insufficiency in PBS.

Respiratory support in the absence of abdominal muscles: A case study of ventilatory management in prune belly syndrome.

Prune belly syndrome (PBS) results in a total lack of abdominal musculature. Abdominal muscles have an important function during inspiration and expiration. This puts the patient at risk for respiratory complications since they have a very limited ability to cough up secretions. Patients in an intensive care unit (ICU) with PBS who receive mechanical ventilation are at even greater risk for respiratory complications. We review the function of the abdominal muscles in breathing and delineate why they are important in the ICU. We include an illustrative case of a long-term ventilated patient with PBS and offer respiratory management options.

Pediatric patient with end-stage kidney disease secondary to Eagle-Barrett syndrome and metastatic unresectable hepatoblastoma treated successfully with chemotherapy and liver-kidney transplant.

HBL is the most common malignant liver neoplasm in children. The etiology of HBL is largely unknown but there are certain syndromes, such as Beckwith-Wiedemann syndrome, that have been clearly associated with an increased incidence of this malignancy. EBS, also known as prune belly syndrome, is a congenital anomaly characterized by lax abdominal musculature, bilateral cryptorchidism requiring, in some cases, hemodialysis due to significant kidney and urinary tract dysfunctions. Despite an improvement on the survival rates of patients with advanced-stage HBL, the presence of concomitant end-stage renal disease that occurs in patients with EBS constitutes a therapeutic challenge for the clinician not only due to the use of nephrotoxic chemotherapy but also due to the potential need for multi-organ transplant. We report case of a 2-year-old male patient with EBS diagnosed with stage IV, metastatic HBL successfully treated with multi-agent chemotherapy while on dialysis whom then underwent a simultaneous liver-kidney transplant followed by adjuvant chemotherapy. Ultimately, the patient achieved cancer remission with normalization of his renal function. Our report emphasizes that patients with HBL in the setting of EBS will not only require careful kidney function monitoring while receiving chemotherapy, but they might also need to undergo multi-organ transplantation in order to achieve adequate cancer control and also normalization of their kidney function. Awareness of this unusual association calls for further investigation to potentially establish a genetic association between these two disease processes.

Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry.

BACKGROUND: As outcome data for prune belly syndrome (PBS) complicated by end-stage renal disease are scarce, we analyzed characteristics and outcomes of children with PBS using the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry data. METHODS: Data were available for 88 male PBS patients aged <20 years who started renal replacement therapy (RRT) between 1990 and 2013 in 35 European countries. Patient characteristics, survival, and transplantation outcomes were compared with those of male patients requiring RRT due to congenital obstructive uropathy (COU) and renal hypoplasia or dysplasia (RHD). RESULTS: Median age at onset of RRT in PBS was lower [7.0; interquartile range (IQR) 0.9-12.2 years] than in COU (9.6; IQR: 3.0-14.1 years) and RHD (9.4; IQR: 2.7-14.2 years). Unadjusted 10-year patient survival was 85% for PBS, 94% for COU, and 91% for RHD. After adjustment for country, period, and age, PBS mortality was similar to that of RHD but higher compared with COU [hazard ratio (HR) 1.96, 95% confidence interval (CI) 1.03-3.74]. Seventy-four PBS patients (84%) received a first kidney transplant after a median time on dialysis of 8.4 (IQR 0.0-21.1) months. Outcomes with respect to time on dialysis before transplantation, chance of receiving a first transplant within 2 years after commencing RRT, and death-censored, adjusted risk of graft loss were similar for all groups. CONCLUSIONS: This study in the largest cohort of male patients with PBS receiving RRT to date demonstrates that outcomes are comparable with other congenital anomalies of the kidney and urinary tract, except for a slightly higher mortality risk compared with patients with COU.

Novel minimally invasive abdominoplasty for selected cases of prune belly syndrome: Step-by-step technique description and clinical indications.

BACKGROUND: Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, bilateral undescended testicles and genitourinary tract anomalies. A variable spectrum of abdominal wall laxity is observed in PBS. We present the first case of a novel technique using a minimally invasive abdominoplasty to specifically address patients with localized abdominal wall weakness in PBS. CASE PRESENTATION: A two-years-old child with PBS presented with recurrent febrile urinary tract infections. Ultrasonography demonstrated a dysplastic right kidney associated with significant ipsilateral ureterohydronephrosis. Voiding urethrocystogram did not show vesicoureteral reflux and DMSA scan depicted a non-functioning right kidney. During laparoscopic right nephroureterectomy and first stage Fowler-Stephens bilateral orchiopexies, a significant right-sided lateral abdominal wall bulging was observed. A minimally invasive laparoscopic abdominoplasty was performed with a one-way running suture using an unabsorbable 2.0 prolene approximating the edges of the musculofascial defect. While undergoing the second-stage Fowler-Stephens orchiopexy, no bulging was observed. CONCLUSION: A minimally invasive abdominoplasty to improve abdominal wall lateral bulging in PBS was feasible and presented good cosmetic result. We anticipate that this technique can be applied for children with PBS with primary lateral abdominal wall bulging, employing one or more suture lines depending on the fascial defect size.

Feasibility and early outcomes of robotic-assisted laparoscopic Mitrofanoff appendicovesicostomy in patients with prune belly syndrome.

OBJECTIVES: To evaluate the feasibility and report our initial experience with Robotic-Assisted Laparoscopic Mitrofanoff Appendicovesicostomy (RALMA) in patients with prune belly syndrome. The Mitrofanoff appendicovesicostomy procedure uses the appendix to create an easily accessible continent, catheterizable channel into the urinary bladder. Historically, the procedure is performed by an open surgical approach in prune belly patients. We describe our initial experience herein. MATERIALS AND METHODS: Between October 2008 and February 2010 three patients with prune belly syndrome underwent RALMA. The appendicovesicostomy anastomosis was performed on the anterior bladder wall and the stoma was brought to the umbilical site or right lower quadrant. At least 4 cm of detrusor backing was ensured. The appendicovesicostomy stent was left in place for 4 weeks postoperatively before initiation of catheterization. RESULTS: Mean age at surgery was 9.7 years (range 5-14 years). Blood loss volume was 20 mL in each case. Overall mean operative time was 352 min (range 319-402 min). There were no intraoperative complications and no open conversions. There was one postoperative complication in the form of wound infection. All patients are catheterizing their stomas and are continent at an average follow-up of 14.7 months (range 5-21 months). CONCLUSION: In our initial experience, RALMA is a feasible option with encouraging early experience for creating a continent catheterizable channel into the urinary bladder in patients with prune belly syndrome.

The association between prune belly syndrome and dental anomalies: a case report.

BACKGROUND: Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged. CASE PRESENTATION: The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted. CONCLUSION: This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.

Bladder Cancer in a Long-term Survivor of the Prune Belly Syndrome.

Prune belly syndrome (PBS) is a rare but morbid complexity of congenital anomalies that consists of abdominal wall defect, bilateral cryptorchidism, and urinary tract dilation. With the recent advances in perinatal care, the life expectancy of patients with PBS has improved. Although renal and sexual outcomes are frequently discussed in the literature, little is known about urinary tract malignancies in adulthood. Herein, we present a case of advanced bladder cancer in a 38-year-old man with PBS. To the best of our knowledge, a malignant tumor arising in a nondefunctionalized or nonaugmented bladder in patients with PBS has not been reported previously.

Pregnant patient with prune belly syndrome: case report.

Prune belly syndrome is a rare congenital disease of unknown etiology that is present in one in every 40 thousand live births, and predominantly affects males, at a ratio of 4:1. In males, it presents with anomalies in the urinary system, absence of abdominal muscles, bilateral cryptorchidism, and infertility. In women, the syndrome has variable presentations, but fertility is preserved. Searching the medical literature, we found only one case of prune belly syndrome in pregnant women. Therefore, the patient in this report is the second case. She was primiparous, 25-years-old, with no abdominal muscles, severe congenital kyphoscoliosis, and pulmonary restriction. Elective cesarean section was performed at 37 weeks of gestation due to maternal risk of uterine rupture by transverse presentation and fetal risk of intrauterine growth restriction. The pre-anesthetic approach defined that general anesthesia might have more risks for the patient due to severe maternal lung disease compared to ultrasound-guided locoregional anesthesia. During prenatal care, there were some maternal complications, such as asthma exacerbations, abdominal pain, and constipation. The newborn was born small for gestational age and this can possibly be explained by maternal restrictive lung capacity. The newborn presented with Apgar score 8/9 and tachypnea, but improved after two hours of life.

Medium and Long-Term Clinical Outcomes of Kidney Transplantation in Patients With Prune Belly Syndrome: A Single-Centre Experience.

OBJECTIVE: To present the medium and long-term outcomes of kidney transplantation performed in patients with Prune Belly Syndrome (PBS) which is one of the congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Thirteen kidney transplantations were performed in nine patients with PBS from January 1994 to December 2020. Demographics, surgical features, graft and patient survival rates were analyzed. Survival outcomes was compared with 106 age- and donor-type matched controls who underwent transplantation because of nonurological causes. RESULTS: The median ages of PBS patients at the time of first and second transplantation were 19 and 34 years old, respectively. One patient had postoperative Clavien grade 3a complication. Eight of 13 transplants are still functional at the last follow-up. Eight patients underwent pretransplant urological operations in preparation for kidney transplantation, while 4 patients underwent urological operations in the post-transplant period. Graft survival for PBS transplants at 5, 10, and 15 years were 90.9%, 57.7%, and 38.5%, respectively. Graft survival for control cohort at 5, 10, and 15 years were 89.9%, 80%, and 74%, respectively. The patient and graft survival rates were similar between PBS and control groups (P = .449, P = .134, respectively). CONCLUSION: This single-center study showed that the medium-term graft survival rates in patients with PBS are encouraging and comparable to non-CAKUT transplant patients, however long-term graft survival rates were found to be proportionally inferior. To help determine the reasons for long-term transplant kidney function deterioration and how to improve them we suggest that multicenter international collaboration will be needed.

Hepatoblastoma and prune belly syndrome: a potential association.

Prune belly syndrome (PBS) is a congenital anomaly characterized by the clinical triad of lax abdominal musculature, bilateral cryptorchidism, and abnormalities of the kidney and urinary tract. Previous reports of malignancy in patients with PBS have been limited to germ cell tumors. Hepatoblastoma (HBL) is the most common hepatic malignancy of childhood, affecting approximately 100 children each year in the USA. We describe a set of 4 pediatric patients with PBS and HBL. All individuals were born after 2002. These subjects lacked genetic, natal, or environmental factors known to confer risk of HBL. The occurrence of PBS and HBL in these patients constitutes a novel potential association.

Nephrogenic adenoma of the bladder in a prune belly syndrome patient: case report and review of the literature.

Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid lesions were identified. Microscopic examination revealed NA of the bladder. To our knowledge, this is the second reported case of NA of the bladder in association with prune belly syndrome.

Encapsulating peritoneal sclerosis in a peritoneal dialysis patient with prune-belly syndrome: a case report.

This case describes a prune-belly syndrome patient who had a kidney transplantation and was diagnosed with Encapsulating Peritoneal Sclerosis (EPS), a rare but potentially fatal condition, mostly associated with Peritoneal Dialysis (PD). The definition of EPS is based on the clinical findings linked to bowel obstruction and on the demonstration of peritoneal thickening. Surgical treatment is the only established basic treatment for the condition. Prune-belly syndrome is characterized by the triad of deficient abdominal musculature, urinary tract abnormality and cryptorchidism. Because it is often associated with end-stage renal disease, PD is essential in the treatment of patients with prune-belly syndrome. The aetiology of EPS follows a 'two-hit theory': the first 'hit' is peritoneal deterioration, caused by long-time exposure to PD. This causes peritoneal disruption which predisposes the patient to a second hit. In our patient, PD discontinuation and renal transplantation are possible 'second hits' that triggered the development of EPS. This case of prune-belly syndrome has all the necessary elements for the development of EPS, and we felt we should report it as the peroperative diagnosis was unexpected.

Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients.

OBJECTIVE: To gain insight into the causes of infertility in Prune Belly Syndrome (PBS) by evaluating reproductive system anatomy and gonadal function in a cohort of postpubertal PBS patients. METHODS: We contacted all PBS patients 14 years old or older treated and followed at our institution. Age at orchiopexy, type of orchiopexy (with or without ligation of gonadal vessels), testicular volumes and positions were evaluated. Pelvic magnetic resonance imaging (to assess prostate size, seminal vesicles, and vas) and hormonal profile were ordered. Sperm analysis and analysis of urine after masturbation were performed after informed consent. RESULTS: Fifteen patients were included in this study. Mean age was 19.2 years. Mean age at orchiopexy was 18 months. Fourteen patients (93.3%) had normal and orthotopic testes. Mean testicular volume was 6.9 cc. Eight patients collected semen, 5 of them (62.5%) had spermatozoa in the specimen and motile sperm was found in 4 (50%). Mean hormone levels were LH: 5.3 mg/dL, FSH: 6.9 mg/dL, testosterone 531 mg/dL. Magnetic resonance imaging revealed hypoplastic prostates in 66.6% and unilateral seminal vesicle absence in 66.6%. No vasal abnormality was noted. CONCLUSION: Patients with PBS may have normal sexual hormonal levels. Motile spermatozoa were found in half of the patients. Our study highlights a high prevalence of prostate and seminal vesicle abnormalities that may represent an important cause for their infertility.

Familial recurrence of urethral stenosis/atresia.

BACKGROUND: We report the familial recurrence of urethral stenosis/atresia in two sibling fetuses with bladder outlet obstruction, severe oligohydramnios, and pulmonary hypoplasia. Urethral obstruction in the fetus, when severe, results in a dilated urinary bladder (megacystis) and associated urinary anomalies (hydroureter, hydronephrosis, renal dysplasia). Distention of the fetal abdomen, the result of megacystis or urinary ascites, leads to stretching and eventually hypoplasia or even absence of abdominal muscles. CASES: This constellation of findings, known by a variety of terms including "prune belly" syndrome, is associated with a variety of urethral changes, including posterior urethral valves and urethral stenosis/atresia. One fetus manifested unilateral postaxial polydactyly of the left hand. CONCLUSIONS: A microdeletion of 6p25.3, identified in mother and one fetus, is not associated with a gene known to be involved in urethral development and therefore of unknown significance.

Long term follow-up in a patient with prune-belly syndrome - a care compliant case report.

RATIONALE: Malformative uropathies represent a major cause of Chronic Kidney Disease (CKD) in children. Genitourinary system is the most frequent and sever affected in Prune-Belly syndrome cases. That is why the findings of early diagnosis and vigilant monitoring for these situations remain a major challenge for the medical team. PATIENT CONCERNS: We present the clinical course of a 10 years old child with diagnosis of Prune-Belly syndrome. A urinary tract abnormality was suspected starting 25 weeks of gestation, when a routine ultrasound showed oligohydramnios, increased size urinary bladder, bilateral hydronephrosis and megaureters, thin abdominal wall. DIAGNOSIS: Prenatal suspicion of Prune-Belly syndrome plays a deciding role in renal disease progression. A detailed clinical exam at birth established the diagnosis of Prune-Belly syndrome. Renal ultrasound confirmed bilateral grade III hydronephrosis and megaureters, with empty bladder, suggesting an obstruction at this level. A persistent urachus was confirmed by catheterization. Later it was used for imaging study that showed bilateral high grade reflux. INTERVENTIONS: The main goal of any treatment is to preserve kidney function. Treatment options depend on the clinical picture. The pregnancy was closely monitorized, but fetal distress appeared so early labor was induced at 32 weeks. At beginning a temporary catheter was placed into the urachus which expressed urine. The urachus drain was left in place until the age of 6 weeks, when a bilateral ureterostomy was performed. Skeletal and genital malformations were present too; the child has undergone several surgeries to solve these abnormalities. OUTCOMES: At the age of 10 years, he is a well-adapted child. He has had fewer than 3 urinary tract infections per year. Long term follow-up showed a relatively slow decline in the estimated Glomerular Filtration Rate in our child (62 ml/1.73m/min). LESSONS: This case suggests that induced early labor could prove beneficial for early upper urinary tract decompression through earlier access to surgery. This is an option especially in situations or region where vesicoureteric or vesicoamniotic shunt placement is not available.

Concordant posterior urethral valves in male monochorionic twins with secondary prune belly syndrome.

BACKGROUND: Posterior urethral valves (PUVs), the most common congenital cause of lower urinary tract obstruction, have been described to occur in identical and nonidentical twins. Until now, reports have been published on 15 cases of PUVs. AIM: We report a new case of concordant PUVs in one set of male monochorionic twins with secondary Prune Belly Syndrome. CASE REPORT: The twins were born by elective cesarean section at 38 weeks of gestation to a 36-year-old mother, gravida 6, para 6. On ultrasound perfomed at 18 weeks's gestation, both fetuses showed signs of PUVs. At birth, physical examination of both revealed a secondary Prune Belly Syndrome (PBS). Postnatal renal ultrasound confirmed the diagnosis of PUV. The two infants underwent transurethral resection of the valves after a cystoscopic evaluation of the urethra. Since this procedure, their voiding has been unremarkable with stable renal function and sterile urine until their discharge. CONCLUSION: We have documented a rare association between VUP and PBS in two monochiorionic twins. More studies are needed to throw light on the significance of the present associated anomalies.

[Prune Belly syndrome: epidemiologic, clinic and therapeutic aspects]. / Syndrome de Prune Belly : aspects épidémiologiques, cliniques et thérapeutiques.

UNLABELLED: Prune Belly syndrome (PBS) is a rare complex malformation with male predominance. His pathogeny is not yet completely elucidated. The goal of this work is to analyze the epidemiological, anatomoclinical and treatment aspects of a retrospective trial in Aristide-Le-Dantec Hospital. PATIENTS AND METHODS: We carried out a retrospective study about 22 cases collected in the departments of urology-andrology and pediatric surgery in Aristide-Le-Dantec Hospital between April 1995 and November 2004. RESULTS: The mean age of the patients was 15 months with extremes of one day and 10 years. The somatic examination revealed 20 cases of complete abdominal muscle aplasia, one right partial form and the last case had a left partial form. Nineteen patients were managed with conservative treatment and three patients benefited a surgical act for urinary abnormalities. The Montfort intervention was performed in two patients respectively aged eight and 10 years. The orchidopexy, stage 1, by Fowler-Stephens technique was performed in 13 cases. Five cases of death and nine cases of testicular atrophy after orchidopexy occurred. The followings were satisfactory in the three operated patients for urinary abnormalities. CONCLUSION: The renal failure is the main cause of death. The management of the urinary tract abnormalities must be performed individually. The testis descending should be performed in newborn period to enhance the fertility chances. The abdominoplasty also should be done early for aesthetic reason and to improve pulmonary, defecation, and voiding functions.