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BJU International Jan 2019To design a novel system of scoring prune belly syndrome (PBS) phenotypic severity at any presenting age and apply it to a large pilot cohort.
OBJECTIVE
To design a novel system of scoring prune belly syndrome (PBS) phenotypic severity at any presenting age and apply it to a large pilot cohort.
PATIENTS AND METHODS
From 2000 to 2017, patients with PBS were recruited to our prospective PBS study and medical records were cross-sectionally analysed, generating individualised RUBACE scores. We designed the pragmatic RUBACE-scoring system based on six sub-scores (R: renal, U: ureter, B: bladder/outlet, A: abdominal wall, C: cryptorchidism, E: extra-genitourinary, generating the acronym RUBACE), yielding a potential summed score of 0-31. The 'E' score was used to segregate syndromic PBS and PBS-plus variants. The cohort was scored per classic Woodard criteria and RUBACE scores compared to Woodard category.
RESULTS
In all, 48 males and two females had a mean (range) RUBACE score of 13.8 (8-25) at a mean age of 7.3 years. Segregated by phenotypic categories, there were 39 isolated PBS (76%), six syndromic PBS (12%) and five PBS-plus (10%) cases. The mean RUBACE scores for Woodard categories 1, 2, and 3 were 20.5 (eight patients), 13.8 (25), and 10.6 (17), respectively (P < 0.001).
CONCLUSIONS
RUBACE is a practical, organ/system level, phenotyping tool designed to grade PBS severity and categorise patients into isolated PBS, syndromic PBS, and PBS-plus groups. This standardised system will facilitate genotype-phenotype correlations and future prospective multicentre studies assessing medical and surgical treatment outcomes.
Topics: Abdominal Wall; Child; Child, Preschool; Cryptorchidism; Female; Humans; Male; Phenotype; Pilot Projects; Prospective Studies; Prune Belly Syndrome; Severity of Illness Index; Ureter; Urinary Bladder Neck Obstruction; Vesico-Ureteral Reflux
PubMed: 30113772
DOI: 10.1111/bju.14524 -
Journal of Pediatric Urology Feb 2017Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and...
UNLABELLED
Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and outcomes. This yielded a total of 18 primary references and eight secondary references. Fetal megacystis has an estimated first-trimester prevalence of between 1:330 and 1:1670, with a male to female ratio of 8:1. In the first trimester, megacystis is most commonly defined as a longitudinal bladder dimension of ≥7 mm. Later in pregnancy, a sagittal dimension (in mm) greater than gestational age (in weeks) + 12 is often accepted. Megacystis can be associated with a thickened bladder wall, which has been objectively defined as >3 mm. Oligohydramnios is present in approximately half of all cases. The most common underlying diagnosis is posterior urethral valves (57%), followed by urethral atresia/stenosis (7%), prune belly syndrome (4%), megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) (1%), and cloacal anomalies (0.7%). Karyotype anomalies are found in 15%, and include trisomy 18, trisomy 13 and trisomy 21. Ultrasound imaging alone is often insufficient to enable a definitive diagnosis, although it may indicate that a specific diagnosis is more likely. Overall, about 50% of reported fetuses with megacystis are terminated, but this proportion varies considerably between countries and over time. Prognostic stratification is evolving, with the most important factors being oligohydramnios, gestational age at diagnosis, degree of bladder enlargement, renal hyperechogenicity, karyotype, and sex.
CONCLUSIONS
This review demonstrated some consensus on the ultrasound criteria for defining fetal megacystis, and illustrated the spectrum of pathologies and their relative frequencies that can cause this condition. It also underlined important associated karyotype anomalies. To progress understanding of the natural history of enlarged fetal bladders, more accurate diagnostics are required, and risk stratification needs to be refined to facilitate prenatal counseling.
Topics: Diagnosis, Differential; Duodenum; Female; Fetal Diseases; Gestational Age; Humans; Pregnancy; Pregnancy Trimester, First; Ultrasonography, Prenatal; Urinary Bladder
PubMed: 27889224
DOI: 10.1016/j.jpurol.2016.09.003 -
Fetal and Pediatric Pathology Oct 2019Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three...
Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with "prune belly" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.
Topics: Acrocephalosyndactylia; Fatal Outcome; Female; Humans; Infant, Newborn; Prune Belly Syndrome; Skull
PubMed: 31002276
DOI: 10.1080/15513815.2019.1603256 -
Einstein (Sao Paulo, Brazil) 2022Prune 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...
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.
Topics: Abdominal Muscles; Adult; Cesarean Section; Cryptorchidism; Female; Humans; Infant, Newborn; Male; Pregnancy; Prune Belly Syndrome; Ultrasonography
PubMed: 36000615
DOI: 10.31744/einstein_journal/2022RC6903 -
Jornal de Pediatria 2016The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is... (Review)
Review
OBJECTIVE
The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract.
DATA SOURCES
Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature.
DATA SYNTHESIS
The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a) combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations); (b) previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios); (c) clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction); and (d) pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment).
CONCLUSION
The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.
Topics: Brazil; Child; Early Diagnosis; Humans; Hydronephrosis; Kidney; Renal Insufficiency, Chronic; Risk Factors; Ultrasonography; Urogenital Abnormalities
PubMed: 26994452
DOI: 10.1016/j.jped.2016.01.006 -
Current Genomics Feb 2016Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting...
Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition in children.
PubMed: 27013925
DOI: 10.2174/1389202916666151014223507 -
Journal of Pediatric Urology Feb 2023The 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... (Review)
Review
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.
Topics: Female; Pregnancy; Humans; Urethra; Prune Belly Syndrome; Urethral Diseases; Kidney; Urethral Obstruction
PubMed: 36424292
DOI: 10.1016/j.jpurol.2022.10.030 -
Journal of Pediatric Urology Apr 2022
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Urology Jan 2016To compare health-related quality of life (HRQoL) in children with prune-belly syndrome (PBS) and their caregivers to healthy controls, as children and adolescents with... (Comparative Study)
Comparative Study
OBJECTIVE
To compare health-related quality of life (HRQoL) in children with prune-belly syndrome (PBS) and their caregivers to healthy controls, as children and adolescents with PBS face numerous potential physical and psychosocial challenges.
MATERIALS AND METHODS
Study participants completed the Pediatric Quality of Life Inventory Generic Core Scales (PedsQL) 4.0 generic core scales (children) or Quality of Life Enjoyment and Satisfaction Questionnaire Short Form (Q-LES-Q-SF) (caregivers) in an online, anonymous format. The PedsQL 4.0 is a 23-item, age-adjusted, validated questionnaire that assesses physical, emotional, social, and school functioning in pediatric patients. The Q-LES-Q-SF is a validated, self-report measure that assesses various areas of daily functioning in adults.
RESULTS
PedsQL 4.0 was completed by 32 children with PBS. Individual physical (66.3 ± 20 vs 84.4 ± 17.3; P < .0001), emotional (68.4 ± 23.4 vs 80.9 ± 19.6; P < .01), social (63.1 ± 21.3 vs 87.4 ± 17.2; P < .0001), and school (53 ± 21.7 vs 78.6 ± 20.5; P < .0001) functioning scales were all significantly lower than in healthy children. Nineteen caregivers completed the Q-LES-Q-SF. Caregivers had a mean raw score of 54.8 ± 9.6, which was significantly lower (P = .02) than the comparative healthy adult cohort (59.8 ± 11.3).
CONCLUSION
PBS profoundly impacts HRQoL in children, negatively affecting physical, emotional, social, and school functioning. Caregivers of PBS patients also report an overall lower quality of life, highlighting the challenges that families with chronically ill children often face.
Topics: Adolescent; Adult; Caregivers; Child; Child, Preschool; Emotions; Female; Follow-Up Studies; Health Status; Humans; Male; Prune Belly Syndrome; Quality of Life; Retrospective Studies; Surveys and Questionnaires
PubMed: 26453837
DOI: 10.1016/j.urology.2015.09.028 -
Clinical Case Reports Jun 2024In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention.
KEY CLINICAL MESSAGE
In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention.
ABSTRACT
A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism.
PubMed: 38895052
DOI: 10.1002/ccr3.8922