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Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
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 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 -
British Medical Journal Nov 1969
Topics: Abdominal Muscles; Abnormalities, Multiple; Child; Humans; Infant, Newborn; Male; Testis; Urogenital Abnormalities
PubMed: 4247811
DOI: 10.1136/bmj.4.5679.368-d -
British Medical Journal Sep 1969
Topics: Abdominal Muscles; Adolescent; Adult; Child; Child, Preschool; Humans; Hydronephrosis; Infant; Infant, Newborn; Kidney; Male; Sex Factors; Ureter; Urinary Bladder
PubMed: 4241305
DOI: No ID Found -
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 -
Canadian Medical Association Journal Jan 1978
Topics: Abdominal Muscles; Child; Cryptorchidism; Humans; Male; Syndrome; Urinary Tract
PubMed: 43193
DOI: No ID Found -
Case Reports in Pediatrics 2011Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either...
Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.
PubMed: 22606508
DOI: 10.1155/2011/121736 -
The East African Health Research Journal 2020Prune Belly Syndrome is a rare congenital disorder with unknown aetiology, consisting of a triad of abdominal muscle wall weakness, undescended testes, and urinary tract...
Prune Belly Syndrome is a rare congenital disorder with unknown aetiology, consisting of a triad of abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. We are unaware of any preceding report of Prune Belly Syndrome in Tanzania, and here we describe two cases reported in Kagera region. The first case is a 2 month old boy with the triad of Prune Belly Syndrome along with pectus carinatum who died due to septicaemia. This case posed a diagnostic challenge at birth and during the natal period. Paucity of comprehensive knowledge of congenital malformations at the peripheral health facilities may have also contributed to the diagnostic challenge in the first place. The second case is a neonate who was referred to regional referral hospital where he was diagnosed with Prune Belly Syndrome at the age of four weeks. Because of limited capacity to manage congenital malformations at the regional referral hospital, he was referred to an urologist at the zonal referral hospital. However, inadequacies in supporting systems to the parents compounded care of the neonate with Prune Belly Syndrome. High index of Prune Belly Syndrome suspicion is needed in a resource limited setting in order to timely make diagnosis. There is also a need to strengthen institutional and individual's capacity for prenatal screening to detect congenital anomalies at an early stage of foetus development. Multidisciplinary management approach is necessary in order to improve the quality of life for patients with Prune Belly Syndrome. Psychosocial and medical support systems should be put in place in order to enhance preparedness for patient care in resource limited settings including equipping the referral hospital with different specialists and ensuring availability of basic investigations for patients.
PubMed: 34308216
DOI: 10.24248/eahrj.v4i1.630 -
Wiley Interdisciplinary Reviews.... 2013Congenital anomalies of the lower urinary tract (CALUT) are a family of birth defects of the ureter, the bladder, and the urethra. CALUT includes ureteral anomaliesc... (Review)
Review
Congenital anomalies of the lower urinary tract (CALUT) are a family of birth defects of the ureter, the bladder, and the urethra. CALUT includes ureteral anomaliesc such as congenital abnormalities of the ureteropelvic junction (UPJ) and ureterovesical junction (UVJ), and birth defects of the bladder and the urethra such as bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUVs). CALUT is one of the most common birth defects and is often associated with antenatal hydronephrosis, vesicoureteral reflux (VUR), urinary tract obstruction, urinary tract infections (UTI), chronic kidney disease, and renal failure in children. Here, we discuss the current genetic and molecular knowledge about lower urinary tract development and genetic basis of CALUT in both human and mouse models. We provide an overview of the developmental processes leading to the formation of the ureter, the bladder, and the urethra, and different genes and signaling pathways controlling these developmental processes. Human genetic disorders that affect the ureter, the bladder and the urethra and associated gene mutations are also presented. As we are entering the postgenomic era of personalized medicine, information in this article may provide useful interpretation for the genetic and genomic test results collected from patients with lower urinary tract birth defects. With evidence-based interpretations, clinicians may provide more effective personalized therapies to patients and genetic counseling for their families.
Topics: Chromosome Mapping; Humans; Signal Transduction; Ureter; Urethra; Urinary Bladder; Urinary Tract; Urogenital Abnormalities; Vesico-Ureteral Reflux
PubMed: 23408557
DOI: 10.1002/wsbm.1212