Materiały źródłowe

• #1 Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512232/

  Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.

• #1 Bladder Exstrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563156/

  Bladder exstrophy is a rare birth defect. As per the largest International dataset, its prevalence is approximately 2 per 100,000 births. The estimated prevalence of classical bladder exstrophy in the United States is approximately 3.3 per 1,00,000 live births. The disease is twice more common in boys as compared to girls. However, some studies have also shown a very high male preponderance, with M to F=6 to 1. […] It is less prevalent among the non-white race, high or low socioeconomic status, and Western geographic region. Additionally, studies have documented an increase in the risk of severe forms of the spectrum of Bladder-exstrophy-epispadias-complex (BEEC) with maternal smoking and irradiation during the first trimester. On the contrary, periconceptional folate decreases the risk of these sever forms.

• #1 Orphanet: Classic bladder exstrophy

  https://www.orpha.net/en/disease/detail/93930

  A subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall. […] The European incidence at birth for the classical exstrophy of the bladder (CEB) is 1/46,000. It seems less frequent in Latin-American or African populations. There is overall male preponderance. […] Most patients have a genetically complex inheritance identified in a genome-wide association study where the recurrence risk was estimated at ~1%. […] Management primarily focuses on surgical techniques to secure bladder, abdominal wall and pelvic closure, achieve urinary continence while preserving renal function, and ensure adequate cosmetic and functional genital reconstruction. […] Life expectancy is usually normal, but complications like renal insufficiency may severely affect survival.

• #1 The Embryology and Epidemiology of Bladder Exstrophy | SpringerLink

  https://link.springer.com/chapter/10.1007/978-1-4757-3056-2_1

  In 1987, the International Clearing House for Birth Defects estimated that classic bladder exstrophy occurred at a rate of 1 in 30,000 live births. […] In a more recent study published in 1994, the University of Pittsburgh estimated classic bladder exstrophy to occur once in 25,000 live births in the Pennsylvania, Virginia, Maryland, and Washington, D.C. areas. […] The University Hospital in Lund, Sweden recently cited an incidence of 1 in 33,500 live births.

• #1 Current management of classic bladder exstrophy in the modern era | African Journal of Urology | Full Text

  https://afju.springeropen.com/articles/10.1186/s12301-023-00356-4

  Within the USA, the incidence of bladder exstrophy is estimated to be 2.15 cases per 100,000 live births. […] In a broader international population, Cervellione et al. reported an incidence of 1 in 46,000 live births. […] Most recently, an increased live prevalence of CBE was reported amidst the German population at 1 in 30,675 live births. […] Historically, CBE is most common among boys with a male-to-female ratio ranging between 25: 1. […] Risk factors include Caucasian race, young maternal age, advanced paternal age, maternal multiparity, and use of assisted-reproductive technologies (i.e., in vitro fertilization). […] In relevant studies, no meaningful associations have been made between CBE incidence and periconception maternal exposure to alcohol, drugs, radiation, or infections. […] The risk of bladder exstrophy in the offspring of individuals with bladder exstrophy is approximately 500-times greater, 1 in 70 births, than baseline risk in the general population.

• #1 A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder ExstrophySearchSearchSearchhomehome

  https://stacks.cdc.gov/view/cdc/123514

  Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. […] The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. […] Prevalence of BE varied by program and showed a decreasing trend from 2000 to −2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life.

• #1 The Exstrophy-epispadias complex | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-23

  Prevalence at birth for the whole spectrum is reported at 1/10,000, ranging from 1/30,000 for CEB to 1/200,000 for EC, with an overall greater proportion of affected males. […] A higher occurrence in males compared to females is observed, ranging from a ratio of 1.5:1 to 6.0:1. […] For E, the International clearinghouse for birth defects monitoring systems estimated an average rate of 2.4 per 100,000; among the included 148 cases, only four were females. […] The reported incidence of CEB varies from 2.1 to 4.0 per 100,000 live births. […] CEB seems to occur more frequently in white infants and the incidence varies according to the geographic region, and socioeconomic and insurance status. […] The highest rate of 8.1 per 100,000 has been observed in Native American Indians, while an incidence of 1 per 100,000 was found for Americans of Asian origin.

• #1 Update on Sexual and Reproductive Function in Bladder Exstrophy – American Urological Association

  https://auanews.net/issues/articles/2023/march-2023/update-on-sexual-and-reproductive-function-in-bladder-exstrophy

  Bladder exstrophy is a congenital anomaly that exists on a spectrum between epispadias to cloacal exstrophy. The incidence of bladder exstrophy has been reported as 2.15 in 100,000 live births in the United States and affects 2.3 males for every female. […] Unassisted male fertility rates have been reported at 10% or lower. […] Adults with a history of bladder exstrophy can have satisfying sexual function and successfully conceive children.

• #1 Bladder exstrophy – epispadias complex in a newborn: a case report and review of literature

  http://www.southsudanmedicaljournal.com/archive/february-2018/bladder-exstrophy-epispadias-complex-in-a-newborn-a-case-report-and-review-of-literature.html

  Bladder exstrophy-epispadias complex (BEEC) is a rare congenital malformation of the genitourinary system usually associated with other malformations. […] The incidence as estimated by Nelson et al is 2.15 per 100,000 live births with classical bladder exstrophy estimated at 1:10,000 to 1:50,000 live births and epispadias estimated at 1:117,000 live births. […] BEEC is a rare congenital malformation of the genitourinary system with an incidence estimated by Nelson et al in 2.15 per 100,000 live births, with an even male-to-female ratio (OR = 0.989; 95% CI = 0.881.12), and a significantly increased incidence in Caucasians compared with other neonates (incidence, 2.63 vs. 1.54 per 100,000; p0.0001). This incidence varies depending on the geographical location and socioeconomic status. […] Classic bladder exstrophy occurs in 1:10,000 to 1:50,000 live births; epispadias is estimated to occur in 1:117,000 live births, and cloacal exstrophy in 1:250,000 births. The incidence is not known in our sub region.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Bladder-Exstrophy-Epispadias-Cloacal-Exstrophy-Complex.aspx

  The incidence of BEEC has been recorded in a variety of ways, including subtypes, ethnicity, and sex ratio. Cloacal exstrophy is the rarest form of the spectrum, with a prevalence of 0.5 to 1 per 200,000 live births. The prevalence of cloacal exstrophy-related pregnancies could be as high as 1 in 10,000 to 1 in 50,000 due to greater rates of stillbirth and pregnancy termination. […] A mix of genetic and environmental factors has also been discovered to play a role in the disease’s etiology. Male sex, race, parental age, and pre-conceptional mother exposure to smoking, certain drugs, and alcohol have all been linked to an elevated incidence of BEEC in studies.

• #1 Management of Bladder Exstrophy in Adulthood: A Concise Guide for Treating Urologists – American Urological Association

  https://auanews.net/issues/articles/2022/june-2022/management-of-bladder-exstrophy-in-adulthood-a-concise-guide-for-treating-urologists

  Exstrophy-epispadias complex (EEC) occurs in 1/10,000 live births and classically presents as bladder exstrophy (BE) with an estimated male:female ratio of 2.4:1–6:1. […] Population level data—to the extent they are available on adults with EEC—suggest that most patients have mild to moderate lower urinary tract symptoms and incontinence with relatively low bother scores. […] There are limited data on the heritability of EEC and it is likely both genetic and environmental. […] Studies have suggested that siblings or children of individuals with EEC are at increased risk of EEC relative to the general population, and ART may also contribute to this risk. […] As men and women with EEC age later into adulthood with improved care, it is important to monitor their renal function. […] This short review is meant to serve as a rough guide to common concerns that arise in patients with EEC and possible treatment or counseling a urologist could provide.

• #1 Exstrophy–Epispadias Complex | Select 5-Minute Pediatrics Topics

  https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14200/all/Exstrophy%E2%80%93Epispadias_Complex?q=Vaginitis

  Bladder exstrophy: Male-to-female ratio is between 2:1 and 4:1. […] Between 1:10,000 and 1:50,000 live births. […] Risk in offspring of individuals with bladder exstrophy and epispadias is 1:70 (500-fold greater than general population). […] Risk of recurrence in family is approximately 1:100.

• #1 Bladder exstrophy – Wikipedia

  https://en.wikipedia.org/wiki/Bladder_exstrophy

  Occurring at a rate between 1 in 10,000 to 1 in 50,000 with a male-to-female ratio of 2.36:1, bladder exstrophy is relatively rare. For those individuals with bladder exstrophy who maintain their ability to reproduce, the risk of bladder exstrophy in their children is approximately 500-fold greater than the general population.

• #1 Bladder Exstrophy | Texas Children’s

  https://www.texaschildrens.org/content/conditions/bladder-exstrophy

  Bladder exstrophy is a rare condition, it affects about 1 in every 40,000 babies […] The risk of having a child with bladder exstrophy is 1 in 70 if one or both parents have had the condition themselves. However, the chance for parents to have more than one child with bladder exstrophy is less than 1%. […] Bladder exstrophy may be detected during a routine prenatal ultrasound if the fetal bladder is not visible or is not functioning normally. Bladder exstrophy can be diagnosed immediately at birth since the bladder is visible outside the body. […] A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the specialized treatment and surgical expertise your baby will need at birth. […] If bladder exstrophy is suspected or diagnosed during pregnancy, you may be referred to a fetal center for further evaluation and specialized care, to ensure proper treatment planning.

• #1 Bladder Exstrophy | Diagnosis, Treatment & Outlook

  https://www.cincinnatichildrens.org/health/b/bladder-exstrophy

  Bladder exstrophy is rare. It occurs in about one out of every 50,000 live births. It is slightly more common in boys than girls. […] Bladder exstrophy is not caused by anything a mother did or did not do during pregnancy. However, bladder exstrophy may happen more often when children are conceived with assisted fertility. […] Family history also plays a role. There is an increased chance that the child will have the condition if a parent has bladder exstrophy. If a family has one child with this condition, there is an increased chance that another child will have it as well. […] Bladder exstrophy often can be diagnosed before birth through a routine prenatal ultrasound. It will show that the babys bladder is not filling and emptying normally. […] In many cases, bladder exstrophy is not diagnosed before birth. But the signs of this condition are visible once a baby is born. The bladder will clearly be seen outside of the babys belly. […] After surgery, children with bladder exstrophy will require lifelong follow-up care. This helps ensure the best health and quality of life possible. […] With surgery and other treatment, children with bladder and cloacal exstrophy can have a happy, productive life with normal life expectancy.

• #1 Bladder exstrophy – epispadias complex in a newborn: a case report and review of literature

  http://www.southsudanmedicaljournal.com/archive/february-2018/bladder-exstrophy-epispadias-complex-in-a-newborn-a-case-report-and-review-of-literature.html

  The diagnosis of BEEC can be made before delivery by prenatal ultrasounds. It is based on the non-visualization of the bladder during the first trimester ultrasound but in most cases, it is confirmed by an ultrasound in the second trimester. […] In our patient three prenatal ultrasounds were done between 12 and 31 weeks and none was diagnostic of bladder exstrophy. The radiologists did not mention any of the above features. Factors contributing to missed prenatal diagnosis may include: low incidence of the pathology, lack of clinical suspicion, few radiologists and high workload, poor local training and lack of continuous medical education. […] Even in the era of highly advanced information technology, the prenatal diagnosis of congenital malformations remains a challenge. Radiologists doing prenatal ultrasounds should check routinely to exclude foetal anomalies.

• #1 Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

  https://stacks.cdc.gov/view/cdc/33829

  Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.

• #1 Epidemiology of bladder exstrophy and epispadias: A communication from the international clearinghouse for birth defects monitoring systems | Scilit

  https://www.scilit.com/publications/b18f0923775720bb63f04f4661c0f924

  Epidemiology of bladder exstrophy and epispadias: A communication from the international clearinghouse for birth defects monitoring systems […] A study of infants with bladder exstrophy or epispadias was based on data from ten malformation monitoring systems around the world. The recorded prevalence at birth of bladder exstrophy was 3.3 per 100,000 births and of epispadias (without bladder exstrophy) 2.4 per 100,000. The recorded rates of bladder exstrophy did not vary between the monitoring systems, but the rates of epispadias did. […] There was no definite time trend between 1970 and 1985 in the prevalence at birth of bladder exstrophy. The study demonstrates how data from different monitoring registries can be pooled to characterize a rare malformation.

• #1 Top Published Expert Doctors for Bladder Exstrophy

  https://findexpertmd.com/d/Bladder_Exstrophy

  297 top medical experts on Bladder Exstrophy across 34 countries and 27 U.S. states, including 209 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 12 including 2 Completed, 3 Recruiting.

• #1 Bladder Exstrophy and Epispadias | Riley Children’s Health

  https://www.rileychildrens.org/health-info/bladder-exstrophy

  Physicians and researchers at Riley at IU Health and the Indiana University School of Medicine are part of an alliance that joins experts at four other children’s hospitals in the Midwest to study bladder exstrophy and find better treatments. […] Because of its rarity and the complexity of the procedures used to treat it, bladder exstrophy benefits from the combined knowledge researchers gain when they collaborate and share discoveries. […] Most children with bladder exstrophy are otherwise healthy, but they do sometimes require more than one surgery to repair the abnormalities in their anatomy.

• #1 Bladder Exstrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/bladder-exstrophy

  Bladder exstrophy occurs in approximately 1 in every 50,000 live births and is slightly more common in males. […] Bladder exstrophy can usually be diagnosed by fetal ultrasound before an infant is born. Bladder exstrophy is suspected when ultrasound shows that the baby’s bladder is not filling and emptying normally. […] Bladder exstrophy can be an overwhelming diagnosis for parents, but our team is here to support you from before birth through delivery and beyond. […] Our long-term goals for children with exstrophy are to optimize daytime and nighttime urinary control, to preserve normal kidney function, and to optimize the appearance and function of the external genitalia. […] After surgical repair of bladder exstrophy, your child will require lifelong follow-up care.

• #1

  https://journals.lww.com/juop/fulltext/2023/03000/urinary_bladder_cancer_in_bladder_exstrophy_and.2.aspx

  The risk of urinary bladder cancer is known to be higher in individuals with classic bladder exstrophy and appears at a younger age compared with the general population. […] Urinary bladder cancer affects individuals with bladder exstrophy and epispadias complex at a young age. […] The risk of urinary bladder malignancy in BEEC increases already after the age of 40 years, and in 87%, it is reported to be an adenocarcinoma. […] In 2001, Smeulders and Woodhouse estimated that patients with bladder exstrophy have a 700-fold higher incidence of urinary bladder cancer than general population, regardless of bladder repair. […] The overall 5-year survival rate was 58% while the overall 10-year survival rate was 25%. […] We confirm the high risk of developing urinary bladder cancer in individuals with CBE and epispadias.

• #1

  https://journals.lww.com/heur/fulltext/2022/34020/an_adult_patient_with_bladder_exstrophy.5.aspx

  Bladder exstrophy is a rare congenital malformation. The incidence of this rare condition is calculated between 1 in 10,000 and 1 in 50,000 live births. […] The exact incidence of patients with bladder exstrophy seeking treatment in adulthood is not documented adequately in the literature. […] The malignant potential of bladder exstrophy is one of the reasons that it should be treated during infancy. […] The treatment should be conducted during infancy due to the increased possibility of bladder malignancy and the challenging management of the abdominal wall deficit that are associated with adult patients with untreated malformation. […] Recurrent pyelonephritis and gradual renal function decrease can also be the result of untreated bladder exstrophy. […] The treatment of adult patients with bladder exstrophy was reported by Gulati etal. […] Bladder exstrophy is a rare congenital malformation that can be easily recognized. The importance of early treatment is associated with the lower possibility. In addition, recurrent UTIs and gradual renal function decrease can be avoided, ameliorating the quality of life of the patients.

• #1 (PDF) Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

  https://www.academia.edu/22687530/Bladder_exstrophy_An_epidemiologic_study_from_the_International_Clearinghouse_for_Birth_Defects_Surveillance_and_Research_and_an_overview_of_the_literature

  The strengths of our study include the largest sample of cases of BE examined to date in one study, a diverse population from 22 different surveillance programs representing several countries in the world, and analysis of prevalence by various maternal and case characteristics. It is important to recognize the need for careful review and assessment of cases with BE in future studies instead of analyzing the data based only on congenital anomaly codes, which may include cases with cloacal exstrophy, and may consequently yield higher prevalence estimates.

• #2 Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512232/

  BE occurs in approximately 1:30,000-50,000 live births, and is more likely to occur in males. There appears to be geographical variation in the prevalence of BE. The male-to-female ratio was 1.5:1 in an international study, but much higher male-to-female ratios of 2.3:1 to 6.0:1 have been reported by other investigators. The prevalence of BE increased with maternal age, from 1.52 per 100,000 births in age group 20 years to 2.69 per 100,000 births in age group 40 years. […] Using the largest international dataset of BE assembled to date, the total prevalence is estimated to be 2.07 per 100,000 births (95% CI: 1.90-2.25). This is in good agreement with prevalence estimates previously reported; however, those earlier figures were based on smaller numbers of cases, and most of them included live births only. The variation in total prevalence by surveillance program in our study could reflect differences in sample size, reporting, and registration. The higher prevalence among male cases and older mothers, especially among isolated cases are important factors to note for clinicians when assessing risk, and to include in future epidemiologic studies.

• #2 Bladder Exstrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563156/

  Bladder exstrophy is a rare birth defect. As per the largest International dataset, its prevalence is approximately 2 per 100,000 births. The estimated prevalence of classical bladder exstrophy in the United States is approximately 3.3 per 1,00,000 live births. The disease is twice more common in boys as compared to girls. However, some studies have also shown a very high male preponderance, with M to F=6 to 1. […] It is less prevalent among the non-white race, high or low socioeconomic status, and Western geographic region. Additionally, studies have documented an increase in the risk of severe forms of the spectrum of Bladder-exstrophy-epispadias-complex (BEEC) with maternal smoking and irradiation during the first trimester. On the contrary, periconceptional folate decreases the risk of these sever forms.

• #2 Bladder Exstrophy | Texas Children’s

  https://www.texaschildrens.org/content/conditions/bladder-exstrophy

  Mother and baby will be closely monitored throughout pregnancy to assess fetal growth and development and watch for signs of complications. […] Delivery at a center with the expertise and resources to treat babies with bladder exstrophy may also be advised, including the highest level neonatal intensive care unit (NICU), to avoid transferring your newborn. […] Children with bladder exstrophy require lifelong care by urologists experienced in the treatment of this rare and complex birth defect.

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