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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 -
BMC Oral Health Dec 2012Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances...
BACKGROUND
Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of the broad spectrum of clinical features of prune belly syndrome. Because the syndrome causes many serious medical problems, early diagnosis of abnormalities involving the primary and permanent dentitions are encouraged.
CASE PRESENTATION
The authors report the clinical case of a 4-year-old Caucasian boy with prune belly syndrome. In addition to the triad of abdominal muscle deficiency, abnormalities of the gastrointestinal and urinary tracts, and cryptorchidism, a geminated mandibular right central incisor, agenesis of a mandibular permanent left incisor, and congenitally missing primary teeth (namely, the mandibular right and left lateral incisors) were noted.
CONCLUSION
This original case report about prune belly syndrome highlights the possibility that dental abnormalities are a part of the broad spectrum of clinical features of the syndrome. Therefore, an accurate intra-oral clinical examination and radiographic evaluation are required for patients with this syndrome in order to provide an early diagnosis of abnormalities involving the primary and permanent dentitions.
Topics: Anodontia; Child, Preschool; Fused Teeth; Humans; Male; Prune Belly Syndrome; Tooth Abnormalities; Tooth, Deciduous
PubMed: 23249412
DOI: 10.1186/1472-6831-12-56 -
British Journal of Anaesthesia Jul 1970
Topics: Abdominal Muscles; Abnormalities, Multiple; Anesthesia, General; Child, Preschool; Cystoscopy; Humans; Male; Respiration, Artificial; Testis; Urogenital Abnormalities; Vomiting
PubMed: 4247671
DOI: 10.1093/bja/42.7.649 -
BMJ Case Reports Oct 2020Unilateral pseudo prune belly syndrome (PPBS) is a rare variant with only two other cases found in the main literature until. We present a 9-month old boy with...
Unilateral pseudo prune belly syndrome (PPBS) is a rare variant with only two other cases found in the main literature until. We present a 9-month old boy with left-sided lax abdominal wall, undescended testes and major vesicoureteric reflux involving only the left side. He underwent left orchidopexy and left end ureterostomy followed by left nephrectomy. Unilateral variant supports the theory of mesodermal arrest as a cause for prune belly syndrome. Treatment is individualised and prognosis is relatively better when compared with other variants of PPBS.
Topics: Abnormalities, Multiple; Cryptorchidism; Cystoscopy; Diagnosis, Differential; Humans; Infant; Laparoscopy; Male; Nephrectomy; Orchiopexy; Prune Belly Syndrome
PubMed: 33127698
DOI: 10.1136/bcr-2020-236611 -
Obstetrics & Gynecology Science Jul 2013Prune-belly syndrome may be related to lower urinary tract obstruction (LUTO). LUTO in the early gestational age exacerbates fetal renal function and may require...
Prune-belly syndrome may be related to lower urinary tract obstruction (LUTO). LUTO in the early gestational age exacerbates fetal renal function and may require intrauterine intervention. If early developed LUTO causes bladder distension and abdominal musculature deficiency, it will result in prune belly syndrome. Therefore, early detection of the disease and proper treatment before the renal impairment is important. However, there are few literatures concerning the treatment of prune belly syndrome in the first trimester. We report a case of prune belly syndrome diagnosed at 11+6 weeks of gestation and the value of vesicocentesis as a modality of treatment. Ultrasound showed dilated fetal bladder and vesicocentesis was successful in reducing the volume of the bladder. However, the pregnancy was terminated upon request.
PubMed: 24328013
DOI: 10.5468/ogs.2013.56.4.265 -
Case Reports in Urology 2023Prune belly syndrome (PBS) is a rare congenital anomaly characterized by a triad of abdominal flaccidity, varying degrees of urinary system involvement, and...
Prune belly syndrome (PBS) is a rare congenital anomaly characterized by a triad of abdominal flaccidity, varying degrees of urinary system involvement, and cryptorchidism. The exact cause of PBS is unknown. Clinical symptoms can range from stillbirth to significant renal and respiratory abnormalities to almost normal children. Treatment typically involves surgical repair of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of related problems. We report the first case of a female newborn with PBS following in vitro fertilization-induced pregnancy with a comprehensive systematic review of all relevant cases.
PubMed: 38073712
DOI: 10.1155/2023/5521590 -
Ultrasound in Obstetrics & Gynecology :... Nov 1998We present a case of prune belly syndrome in a 12-week fetus whose previous anomaly scan at 10 weeks had been normal. The ultrasound diagnosis was based on the findings... (Review)
Review
We present a case of prune belly syndrome in a 12-week fetus whose previous anomaly scan at 10 weeks had been normal. The ultrasound diagnosis was based on the findings of a lower abdominal cystic echo caused by abnormal dilatation of the bladder. Termination was performed at 14 weeks and autopsy confirmed the distended bladder. In addition, there was bilateral hydronephrosis and an absence of abdominal muscles, liver, spleen and diaphragm. A review of the literature indicates that ours may be the earliest reported case of prune belly syndrome.
Topics: Adult; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Trimester, First; Prune Belly Syndrome; Ultrasonography, Prenatal
PubMed: 9819877
DOI: 10.1046/j.1469-0705.1998.12050362.x -
Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in Pediatrics 2019The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. The tract acts as a functional unit, first propelling urine from the... (Review)
Review
The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then storing it at low pressure inside the bladder which intermittently and completely voids urine through the urethra. Congenital diseases of these structures can lead to a range of diseases sometimes associated with fetal losses or kidney failure in childhood and later in life. In some of these disorders, parts of the urinary tract are severely malformed. In other cases, the organs appear grossly intact yet they have functional deficits that compromise health. Human studies are beginning to indicate monogenic causes for some of these diseases. Here, the implicated genes can encode smooth muscle, neural or urothelial molecules, or transcription factors that regulate their expression. Furthermore, certain animal models are informative about how such molecules control the development and functional differentiation of the urinary tract. In future, novel therapies, including those based on gene transfer and stem cell technologies, may be used to treat these diseases to complement conventional pharmacological and surgical clinical therapies.
PubMed: 31032239
DOI: 10.3389/fped.2019.00136 -
The Journal of Urology Jan 2012Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly syndrome with...
PURPOSE
Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly syndrome with chromosome 17q12 deletions encompassing the HNF1β gene have made this a candidate gene for prune belly syndrome. To date, there has been no large-scale screening of patients with prune belly syndrome for HNF1β mutations. We assessed the role of HNF1β in prune belly syndrome by screening for genomic mutations with functional characterization of any detected mutations.
MATERIALS AND METHODS
We studied patients with prune belly syndrome who were prospectively enrolled in our Pediatric Genitourinary DNA Repository since 2001. DNA from patient samples was amplified by polymerase chain reaction, sequenced for coding and splice regions of the HNF1β gene, and compared to control databases. We performed functional assay testing of the ability of mutant HNF1β to activate a luciferase construct with an HNF1β DNA binding site.
RESULTS
From 32 prune belly syndrome probands (30 males, 2 females) HNF1β sequencing detected a missense mutation (V61G) in 1 child with prune belly syndrome. Absent in control databases, V61G was previously reported in 2 patients without prune belly syndrome who had congenital genitourinary anomalies. Functional testing showed similar luciferase activity compared to wild-type HNF1β, suggesting the V61G substitution does not disturb HNF1β function.
CONCLUSIONS
One genomic HNF1β mutation was detected in 3% of patients with prune belly syndrome but found to be functionally normal. Thus, functionally significant HNF1β mutations are uncommon in prune belly syndrome, despite case reports of HNF1β deletions. Further genetic study is necessary, as identification of the genetic basis of prune belly syndrome may ultimately lead to prevention and improved treatments for this rare but severe syndrome.
Topics: Female; Hepatocyte Nuclear Factor 1-beta; Humans; Male; Mutation; Prospective Studies; Prune Belly Syndrome
PubMed: 22114815
DOI: 10.1016/j.juro.2011.09.036