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Pediatric Nephrology (Berlin, Germany) Apr 2024Children with prune belly syndrome (PBS) are at higher risk of developing kidney dysfunction and requiring kidney replacement therapy (KRT). While studies have described... (Review)
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.
Topics: Child; Humans; Child, Preschool; Adolescent; Young Adult; Adult; Prune Belly Syndrome; Kidney Transplantation; Kidney; Renal Replacement Therapy; Renal Insufficiency, Chronic
PubMed: 37968538
DOI: 10.1007/s00467-023-06209-0 -
Journal of Pediatric Urology Oct 2021Prune belly syndrome (PBS) is a multisystem disease characterized by absent or deficient abdominal musculature with accompanying lax skin, urinary tract abnormalities,...
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%.
Topics: Child; Female; Finland; Hospitals; Humans; Infant; Male; Pregnancy; Prune Belly Syndrome; Urinary Tract; Urogenital Abnormalities
PubMed: 34261584
DOI: 10.1016/j.jpurol.2021.06.019 -
Intractable & Rare Diseases Research Nov 2018Prune Belly syndrome (PBS) or Eagle-Barrett syndrome is an anatomo-radiological syndrome consisting of a complex and rare malformation characterized by the following...
Prune Belly syndrome (PBS) or Eagle-Barrett syndrome is an anatomo-radiological syndrome consisting of a complex and rare malformation characterized by the following triad of symptoms: deficiency of the abdominal muscles, malformations of the urinary tract, and bilateral cryptorchidism. The exact etiology is unknown, though PBS predominantly occurs in males. The clinical manifestations can vary widely, from stillbirth to renal and major respiratory dysplasia to almost normal children. The current study included a total of 3 patients. The findings included clinical characteristics, diagnostics, therapy, and clinical outcomes. All patients were diagnosed with congenital aplasia of the abdominal wall and a variety of urogenital malformations. Cryptorchidism and a mega-bladder were observed in 2 patients and distinctive renal malformations, such as renal dysplasia, were observed in 1 patient. Treatment varies but usually includes surgical management of symptoms. One patient required urgent urinary surgery; a vesicotomy was urgently performed due to anuria. These aspects explain the great diversity of opinions on the approach to this syndrome, but the severity of renal dysplasia is the main prognostic factor. Two newborns died a few days later due to severe renal failure. Despite these concerns, many patients with PBS report being in physical and mental health and having a good quality of life.
PubMed: 30560020
DOI: 10.5582/irdr.2018.01094 -
Journal of Rare Diseases (Berlin,... 2023The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts,...
OBJECTIVES/AIMS
The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed to apply a bespoke virtual genetic panel and describe novel variants associated with this condition using whole genome sequencing data within the Genomics England 100,000 Genomes Project.
METHODS
We screened the Genomics England 100,000 Genomes Project rare diseases database for patients with VM-related phenotypes. These patients were screened for sequence variants and copy number variants (CNV) in , , , , , , , and by analysing whole genome sequencing data. The identified variants were analysed using variant effect predictor online tool, and any possible segregation in other family members and novel missense mutations was modelled using in silico tools. The VM cohort was also used to perform a genome-wide variant burden test in order to identify confirm gene associations in this cohort.
RESULTS
We identified 76 patients with phenotypes consistent with a diagnosis of VM. The range of presentations included megacystis/microcolon hypoperistalsis syndrome, Prune Belly syndrome and chronic intestinal pseudo-obstruction. Of the patients in whom we identified heterozygous variants, 7 had likely pathogenic variants including 1 novel likely pathogenic allele. There were 4 patients in whom we identified a heterozygous variant of uncertain significance which leads to a frameshift and a predicted protein elongation. We identified one family in whom we found a heterozygous variant of uncertain significance in which in silico models predicted to be disease causing and may explain the VM phenotype seen. We did not find any CNV changes in known genes leading to VM-related disease phenotypes. In this phenotype selected cohort, is the largest monogenic cause of VM-related disease accounting for 9% of the cohort, supported by a variant burden test approach, which identified variants as the largest contributor to VM-related phenotypes.
CONCLUSIONS
VM are a group of disorders that are not easily classified and may be given different diagnostic labels depending on their phenotype. Molecular genetic analysis of these patients is valuable as it allows precise diagnosis and aids understanding of the underlying disease manifestations. We identified as the most frequent genetic cause of VM. We recommend a nomenclature change to 'autosomal dominant ACTG2 visceral myopathy' for patients with pathogenic variants in and associated VM phenotype.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s44162-023-00012-z.
PubMed: 37288276
DOI: 10.1007/s44162-023-00012-z -
International Braz J Urol : Official... 2021This review aims to study the role of the abdominal wall in testicular migration process during the human fetal period. (Review)
Review
OBJECTIVES
This review aims to study the role of the abdominal wall in testicular migration process during the human fetal period.
MATERIALS AND METHODS
We performed a descriptive review of the literature about the role of the abdominal wall in testicular migration during the human fetal period.
RESULTS
The rise in intra-abdominal pressure is a supporting factor for testicular migration. This process has two phases: the abdominal and the inguinal-scrotal stages. The passage of the testis through the inguinal canal occurs very quickly between 21 and 25 WPC. Bilateral cryptorchidism in Prune Belly syndrome is explained by the impaired contraction of the muscles of the abdominal wall; mechanical obstruction due to bladder distention and structural alteration of the inguinal canal, which hampers the passage of the testis during the inguinoscrotal stage of testicular migration. Abdominal wall defects as gastroschisis and omphaloceles are associated with undescended testes in around 30 to 40% of the cases.
CONCLUSIONS
Abdominal pressure wound is an auxiliary force in testicular migration. Patients with abdominal wall defects are associated with undescendend testis in more than 30% of the cases probably due to mechanical factors; the Prune Belly Syndrome has anatomical changes in the anterior abdominal wall that hinder the increase of intra-abdominal pressure which could be the cause of cryptorchidism in this syndrome.
Topics: Cryptorchidism; Humans; Inguinal Canal; Male; Prune Belly Syndrome; Scrotum; Testis
PubMed: 32758302
DOI: 10.1590/S1677-5538.IBJU.2021.99.03 -
World Journal of Urology Apr 2021The role of the pediatric urologic surgeon does not end with initial reconstructive surgery. Many of the congenital anomalies encountered require multiple staged... (Review)
Review
The role of the pediatric urologic surgeon does not end with initial reconstructive surgery. Many of the congenital anomalies encountered require multiple staged operations while others may not involve further surgery but require a life-long follow-up and often revisions. Management of most of these disorders must extend into and through adolescence before transitioning these patients to adult colleagues. The primary goal of management of all congenital uropathies is protection and/or reversal of renal insult. For posterior urethral valves, in particular, avoidance of end-stage renal failure may not be possible in severe cases due to the congenital nephropathy but usually can be prolonged. Likewise, prevention or minimization of urinary tract infections is important for overall health and eventual renal function. Attainment of urinary continence is an important goal for most with a proven positive impact on quality of life; however, measures to achieve that goal can require significant efforts for those with neuropathic bladder dysfunction, obstructive uropathies, and bladder exstrophy. A particular challenge is maximizing future self-esteem, sexual function, and reproductive potential for those with genital anomalies such as hypospadias, the bladder exstrophy epispadias complex, prune belly syndrome, and Mullerian anomalies. Few endeavors are rewarding as working with children and their families throughout childhood and adolescence to help them attain these goals, and modern advances have enhanced our ability to get them to adulthood in better physical and mental health than ever before.
Topics: Child; Humans; Urogenital Abnormalities; Urologic Surgical Procedures
PubMed: 32328778
DOI: 10.1007/s00345-020-03203-1 -
Urology Aug 2022To evaluate the influence of prune belly syndrome (PBS) on the development of penises in human fetuses.
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.
Topics: Fetus; Humans; Male; Penis; Prune Belly Syndrome
PubMed: 35523289
DOI: 10.1016/j.urology.2022.04.017 -
Journal of Pediatric Urology Jun 2024With advances in medical care and assisted reproductive technologies (ART), fertility prospects for prune-belly syndrome (PBS) men may be changing. This review aims to... (Review)
Review
INTRODUCTION
With advances in medical care and assisted reproductive technologies (ART), fertility prospects for prune-belly syndrome (PBS) men may be changing. This review aims to identify the factors influencing fertility and optimization of reproductive health for PBS patients.
MATERIAL AND METHODS
A scoping review was performed on all records published over 70 years (1952-2022) analyzing fertility in PBS males. Records were summarized in a table and narrative describing cryptorchidism, orchiopexy, testicle histology; prostate characteristics; sex hormone function; semen analyses, ART, and conception ability. This review was registered on Open Science Framework (OSF) and conducted using PRISMA methodology.
RESULTS
827 articles were identified and 83 were selected for data extraction. Before 2000, there were 0.85 publications/year whereas after 2000 there were 1.95 publications/year. Orchiopexy successfully relocated 86 % of PBS testicles into the scrotum. Testicular histology demonstrated 50 % of patients had no spermatogonia, while 47.2 % and 2.7 % had reduced or normal numbers respectively. Leydig hyperplasia and Sertoli only histology were found in 19.4 % of patients. Prostatic hypoplasia and prostatic urethral dilation were found in 93.6 % and 91.4 % of patients respectively. Testosterone, Luteinizing hormone (LH) and Follicle-stimulating hormone (FSH) were normal in 93.9 %, 87.7 % and 77.9 % of patients respectively. Azoospermia and oligospermia was found in 75.7 % and 21.6 % of patients respectively while 60.7 % had antegrade ejaculation. ART successfully extracted sperm in 6 instances and resulted in 4 conceptions, while natural conception was reported twice.
CONCLUSIONS
Data analysis indicates increased attention to fertility prospects for PBS males with evaluation of PBS patient's hormonal function, semen analyses, ART, and conception ability. The reviewed data suggest that PBS males may father biological offspring with contemporary management and also demonstrate the need for consistent reproductive management approaches to maximize their fertility prospects.
Topics: Humans; Male; Fertility; Prune Belly Syndrome; Infertility, Male; Orchiopexy; Reproductive Techniques, Assisted
PubMed: 38267308
DOI: 10.1016/j.jpurol.2024.01.005 -
Early Human Development Nov 2020Fetal lower urinary tract obstruction (LUTO) is classically based on prenatal ultrasound identification of a dilated/ thick-walled bladder, bilateral hydronephrosis,... (Review)
Review
Fetal lower urinary tract obstruction (LUTO) is classically based on prenatal ultrasound identification of a dilated/ thick-walled bladder, bilateral hydronephrosis, dilated ureters and a dilated posterior urethra (also known as the "keyhole sign") in a male fetus. Although the most common underlying diagnosis is posterior urethral valves, the prenatal appearance may be similar with urethral atresia or stenosis, the Prune-Belly Syndrome, or even a cloacal anomaly in a female. These conditions form part of the Congenital Anomalies of Kidney and Urinary Tract (CAKUT) spectrum, which is the commonest cause of end-stage renal disease in children. Although it is difficult to predict postnatal renal function from the prenatal appearance, studies have recently identified predictive features (based on ultrasound findings and fetal biochemistry), and established staging systems to assist with counselling, and, where indicated, patient selection for in-utero intervention. Current in-utero therapy includes amnio-infusion, vesico-amniotic shunting, and fetal cystoscopy with valve ablation or urethral stenting. Postnatal survival and renal functional outcomes, complications and management uncertainties are described, highlighting areas of future development.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Prognosis; Ultrasonography, Prenatal; Urinary Bladder Neck Obstruction; Urogenital Abnormalities; Vesico-Ureteral Reflux
PubMed: 32978001
DOI: 10.1016/j.earlhumdev.2020.105189 -
Neurology Aug 2014
Topics: Abdomen; Brain; Humans; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Middle Aged; Prune Belly Syndrome
PubMed: 25114199
DOI: 10.1212/WNL.0000000000000687