Rare Nephrology News

Disease Profile

Exstrophy of the bladder

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

Q64.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Bladder exstrophy

Categories

Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93930

Definition
A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

Epidemiology
The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported.

Clinical description
CEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface. Urine drips from the ureteric orifices on the bladder surface. Other findings include pubic diastasis of various degrees with divergent rectus muscles and inguinal hernias. In males, the penis is short and broad with dorsal chordee. The urethral plate covers the whole dorsum of the penis from the open bladder to the glandular grove. Both corpora cavernosa are located beneath the urethral plate and the colliculus seminalis and the ductus ejaculatorii are visible as tiny openings in the area where the prostate is presumably dorsally located. Females present with a bifid clitoris next to the open urethral plate. The vaginal opening appears narrow and the perineum is shortened due to the anterior displacement of the vagina and anus. Women with CEB have a predisposition for vaginal or uterine prolapse. Spinal anomalies occur in about 7% of cases but gastrointestinal anomalies are rare in CEB.

Etiology
CEB results from early abnormal development of the intra-abdominal wall and bladder during rupture of the cloacal membrane. Though the underlying cause remains still unknown, a developmental field defect with both genetic and environmental factors is likely to play a role.

Diagnostic methods
Diagnosis is clinical. However, during follow-up, laboratory and imagining studies (such as ultrasound of the urogenital system, pelvic MRI or X-ray, voiding cystography and urodynamics) are useful to determine renal function and assess bladder capacity and detrusor function.

Management and treatment
Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Currently, several methods for bladder reconstruction with creation of an outlet resistance and epispadias repair (either as a staged or a one-stage approach) during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative.

Prognosis
After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Though spontaneous voiding is the main issue, additional surgery might be needed to optimize bladder storage and emptying function. In cases of definite reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function constitute increasingly important issues for both sexes. Psychosocial and psychosexual outcome reflect the importance of long-term care (from birth into adulthood) from a multidisciplinary team of experts for parents and children with EEC to facilitate an adequate quality of life.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the anus
0004378
Abnormality of the clitoris
Abnormality of the clit
0000056
Bladder exstrophy
0002836
Epispadias
0000039
Hypoplasia of penis
Underdeveloped penis
0008736
Umbilical hernia
0001537
Vesicoureteral reflux
0000076
30%-79% of people have these symptoms
Inguinal hernia
0000023
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
5%-29% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Intestinal malrotation
0002566
Omphalocele
0001539
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Anteriorly placed anus
0001545
Autosomal dominant inheritance
0000006
Bifid clitoris
0030911
Horseshoe kidney
Horseshoe kidneys
0000085
Hydroureter
0000072
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney

[ more ]

0000122

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Exstrophy of the bladder. Click on the link to view a sample search on this topic.