Urological Anomalies with Anorectal Malformations

Now it's important to understand that when we have a child who's born with anorectal malformations, that there can be a number of neurological anomalies, and there's a strong association between the urinary tract problems and patients with interectal malformation, partly because all of the pelvic organs are developing at the same time during embryological development. So when there is a problem with the innerectal tract, there oftentimes will be problems with the urogenital tract, and the higher up the anomaly with the interectal malformation, the more likely that there will be involvement of the urinary tract. And the morbidity, the illness, the impact on your child's health that results from these neurological conditions can be significant both in their impact on your child, impact on their quality of life, impact on you from a societal standpoint in terms of cost of care, time away from work, and missed times from school. And these can be, you know, urinary tract infections, urinary incontinence that can affect a child's self-esteem and body image, and most importantly, renal injury resulting in renal failure. That should never happen to a child who's born with healthy kidneys. When we look at the incidence of neurological conditions in children with anorectal malformations, we can actually nowadays very well categorize based on the level of the fistula between the anal intestinal tract and the genitourinary tract. So at the top of the slide there you see cloical malformation, um, which is a condition that occurs only in girls. And in girls who are born with clinical malformation, probably one of the highest incidences of involvement of the urinary tract, we never say 100%, but I would say close to 94% of these girls will have some degree of involvement of their urinary tract, whether they're born with one kidney, whether they have reflux, neurogenic bladder where the nerves to the bladder and the sphincter muscle haven't developed properly. And this results in, you know, ongoing issues with infections, the inability to toilet train, and ongoing injury to the kidneys. For boys, uh, bladder neck fistula, uh, prosthetic fistula, these also have very high incidence of, uh, involvement of the urinary tract for boys and girls, when they have a vestibular fistula, where the fistula is somewhere in the, um, In between the space of the labia, where the urethra and vagina open into, that's the, that's the vestibule, and when girls have vestibular fistulas, their incidence of urological involvement is about 30%. For boys, when the insertion of the intestinal fistula is in the back of the urethra, they have about a 25% involvement of their urinary tract. So you can see that the further we get away from the normal opening, the higher on the urinary tract that the fistulas open into, the more involved the urinary tract is. So when there is no fistula for boys, we can sometimes still see that there's about a 20 to 25% involvement. Um, and that's just because all the nerves in that region just did not form correctly. And for girls, when there's a perineal fistula where the fistula opens just at the level of the skin, but it misses the anal sphincter, we'll sometimes see that even 5% of those children might have some degree of involvement of the urinary tract. All of these numbers are compounded when there is a coexisting tethered spinal cord. We also see an association when girls have absent vaginas associated with any degree of interectal malformation. That particular group of girls seems to have a higher degree of neurogenic bladder, or boys with any degree of interectal malformation and a hypospadius where the urethra doesn't open at the tip of the penis, those boys also seem to have a higher degree of involvement of their urinary tract. So the bottom line is that the degree of involvement of the urinary tract is not insignificant and has to be looked at proactively before we can say, OK, your child falls into the low risk category. So specifically looking at the involvement for male patients when on the um On your left hand side of the screen are patients with the highest degree of involvement, and the right hand side we have patients who have a rectal perineal fistula where the fistula is really close to its normal location. So there we'll see about a 10 to 25% involvement of the urinary tract, and then going back to the left hand side of your screen, 90% involvement when they have a rectal bladder neck fistula. And some other unique aspects of when boys have rectal bladder neck fistulas, sometimes the insertion of the ejaculatory ducts. So when a man ejaculates, the opening of those ducts in the urethra can sometimes be all the way in the bladder neck, and that has long-term implications for fertility. Now when we look at the female patients again on the left hand side of your screen, we have patients with cloacal malformations. On the right hand seat side of your screen, we have patients with rectoperineal fistulas. So when we have a child who's born with a rectoperineal fistula, where the opening of the intestinal tract just missed where it's supposed to be, we'll sometimes see between 0 to 5% of those patients having issues with the perineal fistula and then going up higher. Um, all the way up to about 100% of the patients when they have clinical malformations, so the spectrum is rather wide, and it can be narrowed down once we know the exact termination of the intestinal tract.