Case of Urethral Hypoplasia in Prune Belly Syndrome Successfully Managed With Vesicoamniotic Shunts and a Progressive Augmentation by Dilation Urethra Anterior Procedure.

Urethral atresia is a rare but clinically significant cause of congenital lower urinary tract obstruction. Initial management options include urinary diversion until definitive urethral reconstruction or progressive urethral dilation. Given the overall rarity of the condition, there are no evidence-based guidelines for the immediate and long-term management of urethral atresia, and clinical practice varies widely. We present an illustrative case managed with progressive urethral dilation alongside urinary diversion to highlight key factors in shared clinical decision making. Ultimately, pooled multi-institutional long-term outcomes data are needed to better guide practice for these patients and their families.

PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.

Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, and intra-abdominal undescended testes. Genetically, PBS is poorly understood. After performing whole exome sequencing in PBS patients, we identify one compound heterozygous variant in the PIEZO1 gene. PIEZO1 is a cation-selective channel activated by various mechanical forces and widely expressed throughout the lower urinary tract. Here we conduct an extensive functional analysis of the PIEZO1 PBS variants that reveal loss-of-function characteristics in the pressure-induced normalized open probability (NPo) of the channel, while no change is observed in single-channel currents. Furthermore, Yoda1, a PIEZO1 activator, can rescue the NPo defect of the PBS mutant channels. Thus, PIEZO1 mutations may be causal for PBS and the in vitro cellular pathophysiological phenotype could be rescued by the small molecule, Yoda1. Activation of PIEZO1 might provide a promising means of treating PBS and other related bladder dysfunctional states.

The Toronto nomogram: A Bayesian meta-regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome.

INTRODUCTION: A nomogram for predicting the diagnosis of lower urinary tract obstruction (LUTO) based on an antenatal ultrasound index generated from a Bayesian Meta-regression analysis has been in development and noted with superior diagnostic accuracy compared to the keyhole sign (KHS). We aim to assess the accuracy of the nomogram in expanded diagnostic utilization to predict LUTO. METHODOLOGY: The validation of the nomogram for expanded diagnostic utilization was based on data from a prospective institutional antenatal clinic database between January 2020 and June 2022. Diagnostic accuracy indices were determined for confirmed postnatal diagnosis of LUTO or prune belly syndrome (PBS). Receiver operating characteristics (ROC) curves were generated to compare the area under the curve (AUC) of the nomogram versus KHS. RESULTS: Based on 84 male fetuses with antenatal ultrasound of moderate-severe hydronephrosis (PUV n = 15, PBS n = 4), the KHS had 26.3% (95%CI 9.1-51.2) sensitivity and 100% (95%CI 94.4%-100%) specificity, with 14 false-negatives. The nomogram showed a 84.2 (95%CI 60.4%-96.6%) sensitivity and 95.4 (95%CI 87.1%-99%) specificity with three false-positives. The nomogram also had a superior AUC compared to KHS (0.98 vs. 0.63). CONCLUSION: The nomogram can be used as a valuable tool to trigger further postnatal screening and provide individualized risk assessments to families during prenatal counseling.

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.

Dental treatment of patients with prune belly syndrome.

BACKGROUND: Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome (EGBRS), is a rare congenital disease characterized by deficiency or absence of abdominal wall muscles, urological abnormalities, and bilateral cryptorchidism. TYPES OF STUDIES REVIEWED: A review of literature was done using four search engines (PubMed, Google Scholar, Scopus, Science Direct) and keywords (individually and in combinations): prune belly syndrome, PBS, Eagle-Barrett syndrome, dental manifestation, clinical manifestation, and psychological aspects. The search was run with no language restrictions and covered the 1965-2021 time period. RESULTS: The search yielded a large number of articles. The vast majority were dealing with a variety of treatments. PBS is a multisystem disease with a variable spectrum ranging from mild cases to infant mortality. Comorbidities of PBS (63% gastrointestinal, 65% orthopedic, and 49% cardiopulmonary) present challenges for treatment. PBS affects quality of life of patients and caregivers. We selected and summarized published information that is relevant to oral health and dental care. CONCLUSIONS AND PRACTICAL IMPLICATIONS: Providing information to dental practitioners will improve their understanding of PBS. It will help them to better treat patients with PBS and it will encourage more dental providers to welcome patients with PBS into their dental clinics.

Technical details and long-term outcomes of P.A.D.U.A. for congenital urethral narrowing; a case series and review of the literature.

INTRODUCTION: The P.A.D.U.A. technique is a method of addressing congenital urethral narrowing. It involves passive dilation with a series of progressively larger indwelling catheters. Utilization is limited by scant literature, particularly regarding technical details and long-term durability. Tools for achieving safe and reliable urinary drainage are critical in these patients, who require careful stewardship of their kidney and bladder function. OBJECTIVE: To describe long-term urethral patency and urinary function following P.A.D.U.A., and to provide sufficient technical detail to reproduce the technique. STUDY DESIGN: Patients with congenital urethral narrowing managed with P.A.D.U.A. were identified and chart review was performed. Details of catheter exchange sequences were compiled and described. The primary outcome was the attainment of adequate urethral caliber by successful completion of P.A.D.U.A., and the secondary outcome was voiding per urethra at most recent follow-up. RESULTS: P.A.D.U.A. achieved adequate urethral caliber in 9/11 (82%) of patients. This included seven patients with Prune Belly Syndrome, one with isolated urethral atresia, and one with a cloacal anomaly. P.A.D.U.A. failed to achieve urethral patency in one patient with urethral duplication, who was unable to progress through the catheter sequence, and one patient with Prune Belly Syndrome, who completed P.A.D.U.A. but developed recurrent narrowing one week later. There were no delayed failures of urethral patency. Patients who achieved patency underwent a median of seven catheter placements over 92 days. Median (range) initial and final catheter sizes were 3.5F (1.9-8F) and 14F (8-16F). While 82% achieved patency, only 3/11 (27%) were voiding spontaneously per native urethra at most recent follow-up. DISCUSSION: This series of patients undergoing P.A.D.U.A. for primary treatment of congenital urethral narrowing is the largest to date and provides granular technical details. It aligns with prior reports suggesting that P.A.D.U.A. achieves urethral patency in most patients with Prune Belly Syndrome or isolated urethral atresia, but has limited application in the hypoplastic duplicated urethra. Despite high rates of urethral patency in this select population, many patients will not achieve and maintain spontaneous voiding without catheterization. This is likely due to ongoing deterioration of bladder function caused by the prenatal developmental insult, paralleling the phenomenon seen in posterior urethral valves. CONCLUSION: P.A.D.U.A. is an effective and durable technique for achieving urethral patency. However, due to complicating factors such as the underlying bladder pathology present in many patients, urethral patency achieved with P.A.D.U.A. does not guarantee long-term safe and reliable spontaneous emptying per urethra.

Prevalence of soft tissue calcifications in the maxillofacial region: a radiographic study

Aim: To evaluate the prevalence of soft tissue calcifications in orofacial region and their panoramic radiographic characteristics using digital panoramic radiographs among patients reporting to a tertiary dental hospital. Methods: 1,578 digital panoramic radiographs were retrieved from the archives and scrutinized for the presence of calcifications. Soft tissue calcifications were recorded according to age, gender, site (left or right). Data were analysed using Chi-square and Fisher's exact test using SPSS software and a p < 0.05 was considered statistically significant. Results: Among the total number of radiographs, calcified carotid artery (34.3%), calcified stylohyoid ligament (21%), tonsillolith (10.3%), phlebolith (17.6%), antrolith (6.3%), sialolith (5.9%), rhinolith (2.5%) and calcified lymph nodes (1.9%) were identified. The most commonly observed calcifications were calcification of carotid artery and stylohyoid ligament and the least commonly observed calcifications were rhinolith and calcified lymph node. A statistically significant association of the presence of calcifications of carotid artery and stylohyoid ligament on the left and right side was observed in females and tonsillolith on the right side in males (p-value < 0.05). Considering the gender and age group, the occurrence of antrolith among males and rhinolith among females of young-adult population, tonsillolith among the males, calcified carotid artery and stylohyoid ligament among the females of middle-aged population was found to be significant. Conclusion: Soft tissue calcifications are often encountered in dental panoramic radiographs. Our study revealed that the soft tissue calcifications in orofacial region were more common in women and were found to be increased above 40 years of age

Embarazo Gemelar con Discrepancia Morfologíca. Complejo Malformación y Obstrucción Uretral: diagnóstico prenatal / Twin Pregnancy with Morphologic Discrepancy. Complex Malformation and Urethral Obstruction: prenatal diagnosis

Presentamos un caso de embarazo gemelar, monocorial-bianmiotico con discrepancias morfológicas, diagnóstico de malformación y obstrucción uretral prenatal y diagnóstico postnatal de Síndrome de Prune-Belly. Feto A: Dilatación macroscópica del sistema colector con vejiga grande con paredes finas, hidroureter bilateral , dilatación de la uretra, parenquima renal aumentado de tamaño. Feto B: sin alteraciones morfológicas. Postnatal se observó en feto A abdomen flácido y pastoso, ano imperforado, megavejiga e insuficiencia renal

We present a case of twin pregnancy, monocorial-bi-mixtic with morphological discrepancies, diagnosis of malformation and prenatal urethral obstruction and postnatal diagnosis of Prune-Belly syndrome. Fetus A: Macroscopic dilation of the collecting system with large bladder with fine walls, bilateral hydroureter, dilation of the urethra, renal parenchymal increased in size. Fetus B: without morphological alterations. Postnatal was observed in fetus at flaccid and pasty abdomen, imperforated anus, megavejiga and renal failure.

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.

Study of Penis Structure and Development in Fetus With Prune Belly Syndrome.

OBJECTIVE: To evaluate the influence of prune belly syndrome (PBS) on the development of penises in human fetuses. METHODS: We studied 39 human fetuses (including 4 with PBS) aged 11-22 weeks post conception. We measured the length and width of the free portion and penis root and the penis total length (PTL). In 21 fetuses of the control group and in 3 with PBS we analyze the penile with histochemical and immunohistochemical methods. The total penile area, area of corpora cavernosa, area of corpus spongiosum, and thickness of tunica albuginea were measured by stereological method. Means were compared using the Kolmogorov-Smirnov and ANOVA test (P <.05). RESULTS: We did not observe difference in PTL (P = .999) when we compared the control group (4.69-29.77 mm, mean = 16.2 mm; SD = 6.34 mm) with the PBS (12.23-23 mm, mean = 16.16; SD = 4.99). The total penile area (P = .002), the area of corpora cavernosa (P = .023) and the area of corpus spongiosum (P = .004) had a significant increase when comparing the PBS with the control group. CONCLUSION: In fetuses with PBS there is no change in the length of the penis but we observed a low rate of growth in all the other histologic parameters analyzed, suggesting that PBS impacts the penile development.

Robotic treatment of ureteropelvic junction obstruction in Eagle-Barrett Syndrome.

Eagle-Barrett Syndrome (EBS) is a rare congenital condition characterized by the triad of absent or defective abdominal wall muscles, urinary tract abnormalities, and bilateral cryptorchidism. Ureteropelvic junction obstruction (UPJO) is seldom reported in these patients, despite it being a common cause of childhood obstructive uropathy. We present the case of a patient with EBS who was subsequently identified as having symptomatic UPJO that was successfully treated with robotic pyeloplasty.

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.

Surgical approach to prune-belly syndrome: A review of our series and novel surgical technique.

INTRODUCTION: Surgical management of children with Prune-belly syndrome (PBS) can be divided into three categories: urinary tract reconstruction, abdominal wall reconstruction, and orchidopexy. Adequate repair of the abdominal wall by abdominoplasty at an early age, allows an adequate aesthetic appearance, but also allows a correct development of walking, breathing, defecation and urination. OBJECTIVE: To present a novel surgical technique for abdominal wall reconstruction, which combines plication with complete overlap of the fascia and neoumbilicoplasty with an island flap rotated on itself. STUDY DESIGN: A retrospective review of the patients with PBS who underwent surgery in our center between 2009 and 2020. A new abdominoplasty technique was performed, which consists of plication with complete overlap of the fascia, as well as a neoumbilicoplasty with an island flap rotated on itself. The skin is then well freed from the rest of planes, and the plication is performed with complete overlapping of the muscle-aponeurotic plane from one side to the other. At this time, the interposition of some type of reinforcement material (mesh) may be required in the event of complete absence or insufficient presence of the fascia and muscle. RESULTS: Abdominoplasty was performed in four patients. In all patients, bilateral orchidopexy was performed in the same surgical procedure for intra-abdominal testicles. The mean age of the patients at the time of surgery was 10,5 years and the average admission time was 4 days. There were no short-term or long-term complications. Average follow-up time was 7 years. All patients and their families are satisfied with the aesthetic result obtained. DISCUSSSION: Abdominoplasty in patients with PBS in addition to aesthetic reconstruction, brings significant improvements to wandering, breathing, urination and defecation, improving the quality of life of the patient. Compared to the techniques described, the abdominoplasty we propose makes it possible to easily improve the abdominal wall support by means of meshes or synthetic devices if necessary and allows the evaluation and correction of cryptorchidism or other associated renal abnormalities in the same surgical act, as it allows full abdominal exposure. Likewise our modified abdominoplasty allows the creation of the new umbilicus in a more anatomical way, rectifying its natural position. CONCLUSION: In our experience, this modified surgical technique for abdominal wall repair is a novel procedure in the PBS approach, easily reproducible, which provides good aesthetic results in our series of cases.

Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions.

BACKGROUND: Prune belly syndrome (PBS) is a multisystem disease characterized by absent or deficient abdominal musculature with accompanying lax skin, urinary tract abnormalities, and cryptorchidism. Previous studies have estimated a birth prevalence of 1 in 35,000-50,000 live births. OBJECTIVE: We set out to clarify the epidemiology and early hospital admissions of PBS in Finland through a population-based register study. Further, possible maternal risk factors for PBS were analyzed in a case-control setting. STUDY DESIGN: The Finnish Register of Congenital Malformations was linked to the Care Register for Health Care, a population-based hospital admission data for PBS patients. Additionally, five matched controls were identified in the Birth Register and maternal risk factors of PBS were studied utilizing data from the Drugs and Pregnancy database. RESULTS: We identified 31 cases of PBS during 1993-2015, 15 of which were live born and 16 elective terminations. The total prevalence was 1 in 44,000 births. Three patients (20%) died during infancy. On average, PBS-patients had 3.2 admissions and 10.6 hospital days per year in Finland during the study period years 1998-2015, 35- and 27-fold compared to children in Finland in general. Multiple miscarriages were significantly associated to PBS in maternal risk factor analyses. DISCUSSION: The burden of disease is significant in PBS, demonstrated as a high infant mortality rate (20%), multiple hospital admissions, and inpatient care in days. The available variables are limited as a register-based study. CONCLUSION: We present data on contemporary epidemiology in a population-based study and show that the total prevalence of PBS is 1 in 44,000 in Finland. PBS entails a significant disease burden with admissions and hospital days over 35- and 27-fold compared to the general pediatric population, further aggravated by an infant mortality rate of 20%.

Modern management of and update on prune belly syndrome.

Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, a variable degree of urinary tract involvement and cryptorchidism. Most cases of PBS are sporadic and have a normal karyotype, with 95% patients being male. In the last decade, mutations in known genes that regulate embryonic genitourinary myogenesis have been identified and with increasing knowledge of these critical genes involved in bladder maldevelopment, advances can be made in genetic counseling. A multidisciplinary approach is necessary and individualization of care is recommended according to phenotypic severity. Some patients require abdominal and urinary tract reconstruction while others require as little as bilateral orchiopexies. Major treatment objectives are: preservation of renal function and upper urinary tract; polyuria management; adequate bladder emptying; improvement of corporal image and quality of life; preservation of fertility and adequate sexual function. Long-term surveillance of the urinary tract is essential up to adulthood, because functional dynamics can change over time.