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Bladder exstrophy

This is part of Rare diseases.

Diagnosis: Bladder exstrophy

Synonyms: --

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Publication date 2013-12-27
Version: 2.0

ICD 10 code

Q64.1

The disease

Bladder exstrophy is a congenital malformation affecting the pelvis, the lower part of the abdominal wall, the bladder and urethra, and which leads to the exposure of the bladder below the umbilicus. The interiors of the bladder and urethra are both visible. The term “exstrophy” is derived from the Greek word for inside out, ekstriphein. The disorder was described as early as 1583 by German physician Johann Schenck von Grafenberg, and later by John Wood in 1869.

Occurrence

Every year, three or four children are born with bladder exstrophy in Sweden. In other words, there are approximately three or four cases per 100,000 births. The birth defect is three times more common in boys than in girls.

Cause

During the first four to five weeks after conception the intestines, bladder, urethra and parts of the reproductive organs form a plate which then folds to become a common, pipe-like organ called the cloaca. Individual organs are later separated by the development of a wall (the urorectal septum). Although the cause of bladder exstrophy is unknown, it is believed that the condition is associated with a malformation of the anterior abdominal wall, which normally covers the part of the cloaca that later develops into the bladder and urethra.

Heredity

Bladder exstrophy usually occurs sporadically as single cases in an individual family, but hereditary factors may also play a role. Families have been found where several individuals have been born with the condition. Incidence rates for near relatives may be estimated at one per 70 to 300 population, which can be compared with one per 30,000 in the general population. In twins, the risk that both twins will be affected is greater in identical than non-identical pairs. This indicates that genetic factors may play a part in the development of bladder exstrophy, but the nature of the association is not yet known.

Symptoms

Bladder exstrophy in the foetus causes no specific symptoms in the mother and does not affect the child’s growth. At birth the bladder is not closed but is clearly visible as a bulging, open plate located on the lower part of the abdomen, with the mucous membrane facing outwards. Urine constantly leaks from the ureters on the open bladder. The urethra is also open (epispadias), and lacks closing musculature.

The genitals are also malformed. In boys the penis is short and wide with an upward bend and a divided glans penis, while the urethra is visible as a shiny area on the upper side of the penis. The testicles, however, are normal. In girls the clitoris is divided, and the urethral plate is located between the clitoris and the inner labia. The vaginal opening is pushed forward and is frequently very narrow, while the inner genitalia are normal.

The passage of the ureters through the bladder wall is abnormal as there is no valve to prevent urine from flowing back up the ureters to the kidneys (reflux). This risk increases after the bladder has been surgically closed. Reflux is associated with an increased risk of urinary infection.

The umbilicus is low-set. The anus is unusually far forward and hence closer to the genitals than normal.

The pelvic girdle is not fully closed. The anterior area of the pelvis is underdeveloped and not closed in the middle (at the pubic symphysis), while the structure and function of musculature of the anterior abdominal wall and pelvic floor is impaired. Groin hernias also occur more often than usual.

Otherwise, most children with bladder exstrophy are healthy and develop in the same way as their peers.

Diagnosis

With the help of an ultrasound scan an experienced midwife or doctor can diagnose bladder exstrophy during the foetal stage as the unborn child’s bladder never fills, but remains empty. It can also be seen that the umbilical cord is low-set. In order to confirm a diagnosis, the ultrasound examination should be repeated and an MRI scan (magnetic resonance image) may also be carried out.

At birth it can be seen that the bladder is exposed on the lower part of the abdomen, but there is a risk of misdiagnosis as bladder exstrophy may be mistaken for an abdominal hernia. Ultrasound examinations of the kidneys and heart should be carried out within a week of delivery, and an X-ray of the pelvis taken.

A genetic analysis is also recommended (an array CGH genomic analysis) in order to rule out an underlying chromosomal imbalance.

Treatment/interventions

Swedish paediatric surgical centres have agreed to comply with standard guidelines governing treatment and follow up programmes. As a rule, many surgical procedures are required as the child grows. It is important to take a holistic approach, taking into account the child’s and the family’s social situation when planning surgical procedures.

Within a month or two of delivery the first operation is performed to close the bladder and urethra. While waiting for the operation the baby can easily be cared for at home. A soft, waxy, dressing under the nappy is sufficient to protect the bladder before the operation takes place.

In boys the operation involves the closure of the bladder and the upper part of the urethra, while in girls the whole urethra is closed and the halves of the clitoris joined. At the same time the pubic bones are attached to each other in front of the bladder (closure of the pubic symphsis), a procedure often combined with corrective pelvic surgery (osteotomy).

In boys, reconstructive surgery on the penis and the lower part of the urethra is usually carried out at around the age of one.

Even when the bladder and urethra have been closed, urinary incontinence is a problem. This is because the urethral sphincter is too weak, the bladder is too small and/or the bladder walls are not sufficiently flexible. Treatment for urinary incontinence may include various forms of medical treatment and surgical interventions, and the child learning bladder control with the help of a urotherapist.

An injection may be the first form of treatment. Using a cystoscope, a medical substance is injected under the mucous membrane of the urethra to make it narrower. This allows the child to retain urine better and stimulates the bladder to expand, facilitating toilet training.

Surgical treatment to improve voluntary urinary control is a major procedure made up of several stages. Bladder neck reconstruction, where the upper part of the urethra is made narrower and longer, prevents leakage but often makes it impossible for the child to pass urine through the urethra. Emptying the bladder involves the construction of a sealed passage from the bladder to the lower part of the abdominal wall, often through the appendix. After the operation children learn to empty their bladders regularly with the help of a catheter which feeds into this passage, a procedure known as CIC (clean intermittent catheterization).

If the bladder is too small or insufficiently flexible to hold urine under low pressure, bladder neck reconstruction can be combined with a procedure to enlarge the bladder. In this operation the volume of the bladder is increased using part of the child’s own intestine. Bladder distension is not carried out simply to make the child continent, but also to reduce pressure in the bladder if it is elevated, as high pressure in the bladder can cause kidney damage.

If surgery to improve continence is required, it is not normally performed until the child is sufficiently mature and independent to empty his or her bladder, usually after the age of six or seven. Around the time they reach puberty, some girls may need reconstructive surgery to widen the vaginal opening. This may be necessary in order to facilitate menstrual flow and sexual intercourse later in life. After puberty, girls with bladder exstrophy run an increased risk of prolapse, which may require treatment. After puberty, boys may require complementary surgical treatment on the penis.

There are also other surgical procedures for the treatment of bladder exstrophy. See under “Research and development.”

Children born with bladder exstrophy are treated by a medical team from a paediatric surgical unit. The team consists of paediatric urologists, paediatric orthopaedic surgeons, children’s nurses and paediatric urotherapists, who follow the children until they are between the ages of 16 and 18 years old. The child’s kidneys, bladder, pelvis and general growth are regularly monitored. The team should also include a psychologist or social worker and a co-ordinating nurse.

It is important that parents of a child with bladder exstrophy are informed about the condition by staff with first-hand knowledge and experience. Support from a counsellor or a psychologist may also be useful. Parents should also be offered help to contact other families who have been in the same situation and are willing to share their experiences. The more parents have the opportunity to process their thoughts and feelings and learn as much as possible about the condition, the better support they can provide for their child.

A child with this condition requires continuous, age-appropriate information. Psychological support is also important. For practical purposes, the preschool or school should be informed about the condition, but it is essential that this is on the child’s own terms. There is no need for everyone to know everything. Exercise and physical activity contribute to good levels of self-confidence. For this reason children with bladder exstrophy should participate in games, physical education and sports activities, just like other children. It can also be valuable to have contact with other children who were born with bladder exstrophy, for example through a patient association.

By the time the child enters puberty, the need for psychological support increases and contact with other young people in the same situation may be particularly valuable, especially when it comes to sharing thoughts about sexuality and relationships. Teenagers should be given the opportunity to meet young adults born with bladder exstrophy who are willing to share their own experiences. By hearing of others’ experiences the individual can receive advice and encouragement in dealing with practical problems that may arise. It is also important to meet other people in the same situation in order to counteract feelings of isolation.

Being born with bladder exstrophy does not impose any restrictions on daily life or on contacts with friends at home or at school and does not limit career choice. Bladder exstrophy does not need to be an obstacle to normal social life or to becoming a parent.

Practical advice

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National and regional resources in Sweden

Children with bladder exstrophy are treated by paediatric urologists or orthopaedic surgeons in departments at Swedish hospitals in Gothenburg, Lund, Stockholm and Uppsala. Paediatric urologists collaborate with paediatricians in the family’s local area. In hospitals, paediatric departments also have close contact with local paediatricians and child psychologists.

Resource personnel

Senior Physician Christina Clementson Kockum, Paediatric surgery, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 17 10 00, email: christina.clementsonkockum@skane.se.

Associate Professor Gundela Holmdahl, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, email: gundela.holmdahl@vgregion.se.

Professor Agneta Nordenskjöld, Astrid Lindgren Children’s Hospital, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 700 00, email: agneta.nordenskjold@ki.se.

Associate Professor Arne Stenberg, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 00 00, email: arne.stenberg@akademiska.se.

Courses, exchanges of experience, recreation

  • ILCO, The Swedish Ostomy Association, is a national association organizing activities for children with bladder exstrophy and their families, whether or not the children have ostomies.
  • ILCO organises annual habilitation courses for the whole family.
    Family courses are often held in residential schools in mid-Sweden but are open to families from the whole country. Parents concentrate on psychological, social and medical aspects while the children (between the ages of 0 and 12) are taken care of by experienced play therapists. Brothers and sisters also have a chance to gain insight into their siblings’ situation.
  • Since the early 1980s ILCO has organised week-long summer camps for children between the ages of 10 and 18. Around 20 young people have the chance to meet others with the same types of conditions. Participants have abnormalities in, or diseases of, the urinary or intestinal tracts. Youth leaders are themselves youngsters who participated in summer camps when younger. 
  • ILCO trains support/contact families who have children with bladder exstrophy. Experience shows that there is a great need for support and contact with other parents in the same situation. This need is greatest when the child comes home from hospital and everyday problems start to arise.
  • An important activity run by UNG ILCO is young people’s camps for individuals between the ages of 18 and 35. These include spring and autumn forums. Every area of the country should have a youth association. In the security of the group young people can discuss difficult problems and receive help in finding solutions.

 Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with disabilities and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. A number of programmes is also provided every year for adults with rare diseases. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations etc.

ILCO, The Swedish Ostomy Association, Sturegatan 4, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 546 405 20, fax: +46 8 546 40 526, email: info@ilco.nu, www.ilco.nu.

A contact person for bladder exstrophy issues is available via the ILCO office, email: eva.vinkvist@ilco.nu.

The Association for the Bladder Exstrophy Community, ABC, is an American support group located at: 3075 First Street, La Salle, Michigan, 48145 USA. Tel: +1 734 243 9912, email: admin@bladderexstrophy.com, www.bladderexstrophy.com.

Courses, exchanges of experience for personnel

The European Society for Paediatric Urology (ESPU) arranges courses and international conferences for paediatric urologists, paediatric nurses and paediatric urotherapists, www.espu.org.

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children and young people who are participating in the program. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Research and development

The rarity of bladder exstrophy is an obstacle to gaining knowledge of the condition. For this reason, Swedish centres need to learn from major international centres which operate on many children with bladder exstrophy and hence spearhead the development of new intervention strategies.

Surgical treatment has become more effective over the last decades as a result of increased knowledge of the workings of the bladder and urethra. A remaining challenge is to help children with bladder exstrophy become continent by facilitating voluntary urination. It may be possible to achieve this goal by increasing urine outflow resistance early in life in order to stimulate bladder growth and volume, which in turn will have a positive effect on continence. However, results which can confirm the success of this treatment have not yet been published.

In a group of children who are in need of bladder augmentation, research is under way to identify an alternative to the use of intestinal tissue used today. Experimental studies in cell engineering are continuing, but as yet it has not been possible to construct a functioning artificial bladder.

The outcome of penis reconstruction surgery improved significantly in the early 1990s, when the rotation method was first introduced as an important part of the procedure. New types of surgical repair of epispadias have also been developed. Currently some centres perform bladder neck reconstruction in conjunction with epispadias repair at an early age. Reports after this one-stage procedure are promising so far, although the long-term effects on continence and penis function have not yet been fully evaluated.

In Sweden, research includes investigations into genetic causes of bladder exstrophy, a study of gait patterns in children born with bladder exstrophy in Stockholm and a follow-up study of adults with bladder exstrophy in Gothenburg. A doctoral thesis on bladder exstrophy was published in Lund in 1998.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under, ”Mer hos oss” in the column on the right-hand side.

Newsletter from Ågrenska on bladder exstrophy, nr 207 (2002). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. They can be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se. Information is available on www.agrenska.se.

Information in Norwegian from Senter for sjeldne diagnoser, Rikshospitalet i Oslo, Norway. Tel: +47 23 07 53 40, email: sjeldnediagnoser@ous-hf.no, www.sjeldnediagnoser.no.

Living with Bladder Exstrophy, a book in English that can be ordered from the American support organization ABC. ( See address under “Organizations for the disabled/patient associations etc.”)

Literature

Baird AD, Nelson CP, Gearhart JP. Modern staged repair of bladder exstrophy: A contemporary series. J Pediatr Urol 2007; 3: 311-315.

Ben-Chaim J, Docimo SG, Jeffs RD, Gearhart JP. Bladder exstrophy from childhood into adult life. J R Soc Med 1996; 89: 39-46.

Cain MP, Casale AJ, King SJ, Rink RC. Appendicovesicostomy and newer alternatives for the Mitrofanoff procedure: results in the last 100 patients at Riley Children’s Hospital. J Urol 1999; 162: 1749-1752.

Catti M, Paccalin C, Rudigoz RC, Mouricand P. Quality of life for adult women born with bladder and cloacal exstrophy: A long-term follow up. J Pediatric Urol 2006; 2: 16-22.

Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK et al. Isolated bladder exstrophy associated with a de novo 0.9 mb microduplicationon chromosome 19p13.12. Birth Defects Res A Clin Mol Teratol 2013; 97: 133-139.

Ebert AK, Bals-Pratsch M, Seifert B, Reutter H, Rösch WH. Genital and reproductive function in males after functional reconstruction of the exstrophy-epispadias complex - long term results. Urology 2008; 72: 566-569; discussion 569-570.

Eeg KR, Khoury AE. The exstrophy-epispadias complex. Curr Urol Rep 2008; 9: 158-164.

Evangelidis A, Murphy JP, Gatti JM. Prenatal diagnosis of bladder exstrophy by 3-dimensional ultrasound. J Urol 2004; 172: 1111.

Gearhart JP, Mathews R, Taylor S, Jeffs RD. Combined bladder closure and epispadias repair in the reconstruction of bladder exstrophy. J Urol 1998; 160: 1182-1185.

Gearhart JP, Baird A, Nelson CP. Results of bladder neck reconstruction after newborn complete primary repair of exstrophy. J Urol 2007; 178: 1619-1622; discussion 1622.

Inouye BM, Massanyi EZ, Di Carlo H, Shah BB, Gearhart JP. Modern management of bladder exstrophy repair. Curr Urol Rep 2013 [Epub ahead of print].

Leslie B, Lorenzo AJ, Moore K, Farhat WA, Bägli DJ, Pippi Salle JL. Long-term follow up and time to event outcome analysis of continent catheterizable channels. J Urol 2011; 185: 2298-2302.

Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J et al. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur J Med Genet 2010; 53: 61-65.

Mednick L, Gargallo P, Oliva M, Grant R, Borer J. Stress and coping of parents of young children diagnosed with bladder exstrophy. J Urol 2009; 181: 1312-1316; discussion 1317.

Mouriquand PD, Bubanj T, Feyaerts A, Jandric M, Timsit M, Mollard P et al. Long-term results of bladder neck reconstruction for incontinence in children with classical bladder exstrophy or incontinent epispadias. BJU Int 2003; 92: 997-1001.

Shnorhavorian M, Grady RW, Andersen A, Joyner BD, Mitchell ME. Long-term followup of complete primary repair of exstrophy: the Seattle experience. J Urol 2008; 189: 1615-1619.

Stjernqvist K, Kockum CC. Bladder exstrophy: psychological impact during childhood. J Urol 1999; 162: 2125-2129.

Surer I, Ferrer FA, Baker LA, Gearhart JP. Continent urinary diversion and the exstrophy epispadias complex. J Urol 2003; 169: 1102-1105.

Suominen JS, Helenius I, Taskinen S. Long term orthopedic outcomes in patients with epispadias and bladder exstrophy. J Pediatr Surg 2012; 47: 1821-1824.

Taskinen S, Suominen JS. Lower urinary tract symptoms (LUTS) in patients in adulthood with bladder exstrophy and epispadias. BJU Int 2013; 111:1124-1129.

Wittmeyer V, Aubry E, Liard-Zmuda A, Grise P, Ravasse P, Ricard J et al. Quality of life in adults with bladder exstrophy-epispadias complex. J Urol 2010; 184: 2389-2394.

Woodhouse CR, North AC, Gearhart JP. Standing the test of time: long-term outcome of reconstruction of the exstrophy bladder. World J Urol 2006; 24: 244-249.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: exstrophy

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Ulla Sillén, The Queen Silvia Children’s Hospital, Gothenburg, Sweden. Specialist nurse Rose-Marie Wallenberg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden has also contributed to the production of this material.

The material has been revised by Associate Professor Gundela Holmdahl, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organizations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2013-12-27
Version: 2.0
Publication date of the Swedish version: 2013-09-24

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

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