Vacterl Syndrome Life Expectancy

Anorectal malformations (ARM) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tract. They affect approximately 1:3,500-1:5,000 live births [1]. They may occur in isolation or in association with abnormalities of the urogenital, cardiovascular and skeletal systems as well as with the vertebral, anal, cardiac, tracheoesophageal, renal and limb abnormalities (VACTERL) association. Treatment has traditionally focussed on achieving urinary and faecal continence with preservation of renal function. Diversion of the bowel may be required. It will often be possible to create a continent bladder, though emptying may require intermittent catheterisation. A continent rectum is more difficult and many children remain clean only by a process of "controlled constipation" or continue with a colostomy [2]. Faecal continence remains a challenge and is achieved in about 60% of patients.

The most severe form of cloaca is rare. It is often associated with other major congenital anomalies. The cloaca is a common channel comprising the urethra, vagina and rectum; there is almost never an anal sphincter and seldom a urethral one (Fig. 36.1). In intermediate forms the urethral sphincter may be normal. The urinary anomalies are potentially lethal and reconstructive surgery in childhood is technically very difficult. There is, therefore, little information

Vacterl Syndrome Life Expectancy
Fig. 36.1 Adult patient with an uncorrected cloaca

on long-term outcomes. This condition must be distinguished from cloacal exstrophy, which is a severe variant of ectopia vesicae.

With improved surgical techniques and paediatric intensive care facilities, many patients with ARM now live relatively normal lives, with a near-normal life expectancy. Therefore, sexual function and fertility are of increasing importance. Sexual function may be impaired for several reasons:

1. Associated malformations of the genital system

2. Iatrogenic injury at the time of surgical repair either to genital/reproductive structures, or to their nerve supply structures

3. Psychological problems as a consequence of ARM may impair relationships

4. Social isolation, which may be associated with urinary or faecal incontinence

Patients who have normal sexual function may also experience difficulties with fertility. In male patients these two aspects may be inextricably linked, as men with erectile difficulties also may fail to ejaculate and will require sperm extraction techniques. The extent of these problems in the adult ARM population is difficult to assess as many of the long-term outcome studies are carried out to include a paediatric population, where questioning about sexual activity and fertility would be inappropriate. Therefore, cohorts for late follow up have to be recruited from a variety of sources, including patient support groups, which may give an overestimate of late problems. Furthermore, research tends to concentrate on outcomes for faecal continence. Even when sexual function is considered, it seems to be little more than a footnote, sometimes without distinguishing between genders.

In spite of improved surgical techniques, there is still an appreciable amount of morbidity associated with ARM. The consequences of a serious medical condition combined with protracted and repeated hospital admissions will undoubtedly have an effect on both the patients and their families. Patients with ARM have been shown to have increased rates of significant emotional problems. In two recent series the rates of psychiatric diagnoses were 58% and 35%, respectively [3,4]. The higher rate may have been due to the twice-daily anal dilatations that the patients underwent as children. The intrusiveness of such a procedure may have had long-term consequences for self-esteem and body image, both of which are important in the context of sexual confidence. It may be prudent to consider this when defining bowel management regimes for young patients with ARM, where regular rectal enema or washout administration may be required to achieve faecal continence.

Bai et al. [5] have also postulated that the effects of faecal incontinence would have a knock-on effect in adult life, impacting on, for example, future occupation and relationships. It would seem likely that young adults who are faecally incontinent will have issues with close relationships and self-esteem. Furthermore, the stigma of incontinence may exacerbate any problems the patients may have, as society views people who are incontinent in a negative way, further limiting the role these patients feel able to play in society [6].

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