AMICI DI GABRIELE

Bladder Extrophy

What Is It?

Bladder exstrophy is a congenital malformation that most notably involves protrusion of the urinary bladder through a defect in the abdominal wall, causing an opening of the urethra in males and a cleft mons in females. Urine leaks out of the urethral orifices, visible on the bladder surface, or through the urethra.

Depending on the severity, bladder exstrophy may therefore affect the urinary system, the musculoskeletal system (pubic diastasis), the pelvic floor, the abdominal wall or the genitals.

Bladder exstrophy is one of a number of anomalies along the spectrum of the exstrophy-epispadias complex, with varying degrees of severity from epispadias and bladder exstrophy to cloacal exstrophy, which is the most serious form.

The number of babies born with bladder exstrophy is estimated to be around 1 in 30,000 live births, with a predominance of male sufferers.

New ECLs (Essential Care Levels) introduced by Prime Ministerial Decree of 12 January 2017 came into effect on 15 September 2017. The updated list of rare diseases which are exempt from National Health Service prescription charges included bladder exstrophy (RN1018) and epispadias (RNG264).


Causes
The cause of the development of the defect in the foetus (around the fourth/fifth week of gestation) is unknown. It seems that a genetic predisposition of the parents may play a role in the etiology as well as environmental factors.
Some very rare cases of family recurrence have been described.


Diagnosis

Diagnosis is based on the clinical situation at birth. However bladder exstrophy can be identified in the womb with careful echography to identify the abnormality and a persistent failure to see a foetal bladder which is normally full.
Parents must be given an exhaustive consultation, explaining that with suitable surgery a favourable outcome can be achieved.


Treatment

Treatment of the malformation, right from birth, primarily involves surgery designed to achieve closure of the abdominal wall, urinary continence, preservation of kidney function, and an adequate appearance and functionality of the genitals.

Over the years there have been a number of methods to reconstruct the apparatus, with two different approaches: one involving several operations and another involving a single operation.

The spontaneous and complete emptying of the bladder remains the main goal. If this cannot be achieved, a urinary diversion must be considered (e.g. the Mitrofanoff procedure: the urine is deviated from the bladder through a conduit of body tissue, such as the appendix, to a stoma – or opening – on the abdominal wall, where a catheter can be used to eliminate the urine.

In puberty, problems related to the reproductive system and the genitals naturally take on a greater importance in both sexes, and surgery may be necessary for adequate aesthetic and functional reconstruction.

The psychosocial and psychosexual effects often mean that long-term treatment (from birth to adulthood) is necessary.

Bladder exstrophy patients are best treated by an expert and multidisciplinary medical team with experience of numerous exstrophy cases.


REGIONAL NETWORK COORDINATION CENTER FOR RARE DISEASES

Mario Negri Pharmacological Research Institute – Ranica (Bergamo)

Tel. 035-4535304    E-mail: raredis@marionegri.it

BUZZI CHILDREN HOSPITAL OF MILAN

Via Castelvetro 32 – MILANO
Reparto di Chirurgia Pediatrica
Segreteria Tel. 02-57995435/5273

FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO

Via Commenda, 16 – MILANO
Reparto di Urologia Pediatrica
Segreteria Tel. 02-55038690

JOHNS HOPKINS HOSPITAL

INTERNATIONAL OFFICE
601 N. Caroline Street, Suite 1080 – Baltimore, MD (Maryland) 21287-0735, USA
Contact for Italian patients: Ms. Linda Ridings Rubino
E-mail: lriding1@jhmi.edu
Telephone: 001 – 410 502 8065 Fax: 001 – 410 502 6395
Web site: www.hopkinsmedicine.org