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.

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.

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.

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.

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.

Síndrome del abdomen en ciruela pasa / Prune belly syndrome

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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.

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.

Minimal Invasive Linea Alba Reconstruction for the Treatment of Umbilical and Epigastric Hernias with Coexisting Rectus Abdominis Diastasis.

INTRODUCTION: Patients with umbilical or epigastric hernias benefit from mesh- based repairs, and even more so if a concomitant rectus diastasis (RD) is present. The ideal technique is, however, still under debate. In this study we introduce the minimal invasive linea alba reconstruction (MILAR) with the supraaponeurotic placement of a fully absorbable synthetic mesh. MATERIALS AND METHODS: Midline reconstruction with anterior rectus sheath repair and mesh augmentation by an open approach is a well-known surgical technique for ventral hernia repair. Between December 1, 2016, and November 30, 2017, 20 patients with symptomatic umbilical and/or epigastric hernias, and coexisting RD underwent a minimally invasive complete reconstruction of the midline through a small access route. The inner part of both incised and medialized anterior rectus sheaths was replaced by a fully absorbable synthetic mesh placed in a supraaponeurotic position. RESULTS: Patients were hospitalized for an average of 4 days and the mean operating time was 79 minutes. The mean hernia defect size was 1.5 cm in diameter and the mean mesh size was recorded as 15.8 cm in length and 5.2 cm in width. Two patients sustained surgical postoperative complications in terms of symptomatic seroma occurrences with successful interventional treatment.The early results (mean follow-up period of 5 months) showed no recurrences and only 1 patient reported occasional pain following exertion without rest. DISCUSSION: MILAR is a modification of the recently published endoscopic linea alba reconstruction restoring the normal anatomy of the abdominal wall. A new linea alba is formed with augmentation of autologous tissue consisting of the plicated anterior rectus sheaths. Supraaponeurotic placement of a fully absorbable synthetic mesh eliminates potential long-term mesh-associated complications. Regarding MILAR, there is no need for endoscopic equipment due to the uniquely designed flexible lighted retractors, meaning one assistant less is required.

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.

Diastasis of rectus abdominis muscles in low back pain patients.

BACKGROUND: Abdominal muscles are important spinal stabilizers and its poor coordination, as seen in diastasis of rectus abdominis (DRA), may contribute to chronic low back pain (LBP). However, this has not yet been studied directly. OBJECTIVES: To conduct a pilot study to examine the association between DRA and LBP. METHODS: Using a digital caliper, standard clinical DRA measurement was performed in 55 participants with and 54 without chronic LBP. RESULTS: Participants were on average 55 years old, 69 (63%) were women. Among the 16 participants with DRA, 11 (69%) had chronic LBP; among the 93 participants without DRA, 44 (47%) had LBP. Among men, 7 of 9 (77%) with DRA had LBP and 14 of 31 (45%) without DRA had LBP. Among women, 4 of 7 (57%) with DRA had LBP and 30 of 62 (48%) without DRA had LBP. BMI was the strongest correlate of DRA and may explain the relation between DRA and chronic LBP. CONCLUSIONS: DRA and LBP may be interrelated, especially among men. This may be a function of greater BMI in individuals with chronic LBP. Understanding the association between DRA, LBP, and BMI may have important implications for treatment of LBP and for intervention.

Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome.

BACKGROUND: Prune belly syndrome (PBS) is a rare congenital disorder among adults, and the way for repairing abdominal wall musculature has no unified standard. MATERIALS AND METHODS: We described combining laparoscopic and open technique in an adult male who presented with PBS. Physical examination and radiological imaging verified the case of PBS. The deficiency of abdominal wall musculature was repaired by combining laparoscopic and open technique using a double-deck complex patch. RESULTS: The patient successfully underwent abdominal wall repair by combining laparoscopic and open technique. Postoperative recovery was uneventful, and improvement in symptom was significant in follow-up after 3, 6, 12, and 24 months. CONCLUSIONS: Combining laparoscopic and open technique for repair of deficiency of abdominal wall musculature in PBS was an exploratory way to improve life quality.

De las bases embriológicas a la clínica en el síndrome de Prune Belly / From the embryological basis to the clinical Prune Belly syndrome

El síndrome de Prune Belly es un trastorno congénito, que obedece según lo reportado actualmente a una base genética. Está caracterizado por la siguiente triada: deficiencia en grados variables de la musculatura abdominal, criptorquidia bilateral y anomalías del tracto urinario. Se identifican dos variantes del síndrome, una mortal y otra compatible con la vida(AU)

Prune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life(AU)

Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography.

INTRODUCTION: Magnetic resonance urography (MRU) has proven to be useful in the setting of complex urologic anatomy. Prune belly syndrome (PBS) patients are known to have malformed and highly variable urinary tract anatomy due to significant dilation and renal dysplasia. OBJECTIVE: To further characterize the renal and ureteral anatomy and renal function in patients with PBS via MRU. STUDY DESIGN: Children with PBS undergoing MRU (2006-2011) were identified. Studies were performed to evaluate severe hydronephrosis in all patients. Demographics, previous imaging, and MRU findings were collected. A single radiologist reviewed all studies. RESULTS: MRU was performed on 13 boys, with a median age of 29.3 months (IQR 6-97). Two patients underwent >1 study for ureteropelvic junction obstruction (UPJ obstruction) and calyceal diverticulum with a solitary kidney, respectively. Hydroureteronephrosis (HUN) was identified in 12 boys (92%), while one (8%) did not have ureteral dilation. All patients demonstrated morphologic abnormalities beyond HUN as follows: five (38%) renal dysplasia; five (38%) scarring; four (31%) calyceal diverticula; and three (23%) thickened bladder. The median renal transit time (RTT) was 6 min (IQR 3.5-10.5), and >8 min (range 8.5-35) in six patients; one patient was ultimately diagnosed with obstruction. The mean serum creatinine was 0.5 ± 0.3 mg/dl. This summary figure is a coronal excretory phase T1 MRU image demonstrating absence of well-defined calyces and a 5-cm calyceal diverticulum (white arrow). DISCUSSION: This study reports significant anatomic and functional findings on MRU that were not readily apparent when using standard imaging for children with PBS. The high-resolution images and functional data obtained with MRU allowed for visualization of calyceal diverticula and abnormal renal pelvic anatomy not previously described in PBS. In addition, renal dysplasia could be identified with MRU, which is badly characterized in the PBS population outside of renal biopsy studies. Potential limitations of the study included its nature as a small retrospective case series, which limited the ability to compare imaging modalities. Imaging modalities were based on individual clinical needs; therefore, comparison with diuretic renal scintigraphy was limited. CONCLUSION: MRU provided anatomic and functional details of the urinary tract in children with PBS that allowed for characterization of new renal anatomic abnormalities, including the incidence of calyceal diverticula and renal dysplasia, which have not been previously described. While renal scarring, dysplasia and calyceal diverticula were easily discerned on MRU in ten patients, their clinical significance requires longer follow-up in a larger patient population.