Bladder exstrophy is a rare congenital malformation that belongs to the so-called bladder exstrophy-epispadias complex. It is characterized by a bladder that is open to the outside, a gaping pubic bone (symphysis) and - in boys - a split urethra along the back of the penis (epispadias) or - in girls - a two-part clitoris with a split urethra.

The bladder exstrophy-epispadias complex occurs only very rarely today (about one in 40-50,000 live births). These disorders are usually diagnosed during prenatal screening using ultrasound. In such cases, a detailed consultation by an interdisciplinary team is necessary during the pregnancy.

The cause of this type of disease is not known. The bowel, bladder and reproductive organs develop from a common anlage during intrauterine growth and then form the respective organs. At the end of pregnancy, the bowel should be controlled at the correct location by the sphincter muscle, in girls the uterus and vagina must be positioned at the correct location, while the urinary bladder, as a closed hollow organ, should collect urine in order to then excrete it in a controlled manner via the urethra. In the case of pelvic organ closure defects - to put it simply - "nature has forgotten" to complete this process successfully. In the most pronounced and fortunately extremely rare case, these children have a so-called fissure pelvis, in which all three organ systems mentioned are still combined and lie open (so-called fissura vesicointestinalis or cloacal ecstrophy). In bladder ecstrophy, the bladder and urethra are affected and lie as an unclosed plate on the pelvis, which is also unclosed. In the mildest form of this defect, only part of the bladder (so-called bladder neck) including the urethra or only the urethra alone is not closed, depending on the severity of the defect. In male infants, the penis appears flat and the urethra is open (urethral groove), from which the tubular urethra should have formed. Further information can be found at: www.blasenekstrophie.de


All of these congenital changes can be treated surgically with varying degrees of functional and/or cosmetic results. However, the long-term expectations with regard to cosmetic appearance, continence and sexual function always depend on the individual extent of the disease. It is not possible to make any general statements about this in advance. These special malformations require pre-diagnosis and detailed discussions with the parents.

Today, pelvic closure defects are usually detected during prenatal diagnostics. When the expectant parents are then presented at the MHH consultation, we are happy to advise them on the respective treatment options and also talk about the long-term significance of the diseases for the affected families.
After birth, the children are initially cared for in the neonatal intensive care unit of the pediatric clinic and examined for possible further illnesses.

The surgical procedure for bladder exstrophy, which is mentioned here as an example, is carried out within the first 2 weeks of life. In the first surgical step, the missing navel is reconstructed, the bladder is closed and then placed in the right position in the pelvis. The muscles of the future bladder sphincter are placed over the neck of the bladder and the pelvis is closed. It is not necessary to cut through the pelvic bones during the operation, as the pelvis is still malleable enough for the primary closure to always succeed.

After the operation, the legs are wrapped together for 6 weeks to relieve pressure on the pelvic suture (so-called mermaid or mummy bandage). During the healing phase, urine is drained for 14 days via 2 catheters located in the ureters. After they are removed, the urine enters the newly formed bladder for the first time and can be emptied through the new urethra after a further week.

Repeated, close-meshed physical examinations and further diagnostics (blood tests, swabs for bacteria, ultrasound and X-ray examinations) are carried out on affected infants. Attempts are made to get the NEC "under control" with circulation-supporting medication and antibiotics. However, it often happens that the intestinal inflammation is so severe that a general inflammation of the peritoneum develops (peritonitis) or the intestinal wall ruptures. We then have to operate on your child.

 

The further steps depend on the individual course of the disease and cannot be described in general terms here. All patients with diseases from this group of forms are treated by us continuously and at individually adapted intervals.

During our first consultation, we will inform you of the need to contact a self-help group as soon as possible. This is because those affected themselves and their relatives are best placed to provide information about such a rare disease and its significance for their future life. We refer to the following website: www.blasenekstrophie.de