Prune Belly Syndrome – PediaCast 534
- Dr Linda Baker visits the studio as we consider prune belly syndrome. Discover the cause, signs and symptoms, diagnosis, management and long-term outcomes of this rare condition. Learn how early diagnosis and intervention can make a big difference for these little patients. We hope you can join us!
- Prune Belly Syndrome
- Pediatric Urology at Nationwide Children’s Hospital
- Prune Belly Syndrome in Children
- 5 Things to Know about Prune Belly Syndrome
- Prune Belly Syndrome Network (PBSN)
Announcer 1: This is PediaCast.
Announcer 2: Welcome to PediaCast, a pediatric podcast for parents. And now, direct from the campus of Nationwide Children's, here is your host, Dr. Mike.
Dr. Mike Patrick: Hello, everyone, and welcome once again to PediaCast. It is a pediatric podcast for moms and dads. This is Dr. Mike coming to you from the campus of Nationwide Children's Hospital. We're in Columbus, Ohio.
It's episode 534 for March 9th, 2023. We're calling this one "Prune Belly Syndrome". Want to welcome all of you to the program.
So today, we are covering something that you may have never heard of before, and that is because it is a rare disease, but it also does happen, ends up being about one to two babies that are affected out of every 100,000 live births. So that means it's not something that you never see, but it also is not really all that common. And so, there's not a lot of awareness out there about this condition.
It's also called Eagle-Barrett Syndrome. And it is a condition that's present at birth. And one of the key features is underdevelopment of the abdominal wall muscles, and that leads to excessive skin, which gives the belly a wrinkled appearance like a prune. Along with the abdominal wall problem, there are also varying degrees of a kidney and urinary tract abnormalities. And in boys, we see undescended testicles.
Of course, there are lots of things to explore as we consider prune belly syndrome, such as the cause of this condition, how it's diagnosed and treated, the long-term outlook or prognosis for these children. And we'll also consider how early diagnosis and interventions are making a big difference for the quality of life of kids and families impacted by prune belly syndrome.
To help us explore the topic, we are excited and honored to have Dr. Linda Baker visiting the studio today. She is a world-renowned urologist, surgeon and principal investigator with the Kidney and Urinary Tract Center at the Abigail Wexner Research Institute at Nationwide Children's Hospital. She will be joining us soon.
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So, we are going to take a quick break. We'll get Dr. Linda Baker settled into the studio, and then we will be back to talk about prune belly syndrome. It's coming up right after this.
Dr. Mike Patrick: Dr. Linda Baker is a pediatric urologist at Nationwide Children's Hospital and a clinical professor of urology at the Ohio State University College of Medicine. She also serves as co-director and principal investigator in the Kidney and Urinary Tract Center at the Abigail Wexner Research Institute at Nationwide Children's.
Dr. Baker has a passion for helping children and families impacted by prune belly syndrome. That's what she's here to talk about. But first, let's give a warm PediaCast welcome to our guest, Dr. Linda Baker. Thank you so much for visiting us today.
Dr. Linda Baker: It is my pleasure. Thank you so much for inviting me.
Dr. Mike Patrick: Yeah, really happy that you took time out of your busy schedule to join us. Let's start with the definition. prune belly syndrome, also known as Eagle-Barrett syndrome. What exactly is this condition?
Dr. Linda Baker: Well, it's an incredibly rare congenital birth defect of children, and it also obviously can affect adults after they have survived childhood.
By definition, it's thought to be three major features. Number one, that the belly or abdominal wall of the child is really rather soft and lax and doesn't really have much muscle in it. And so, when you might look at a child or an adult that has it, they might have a more rounded or floppy type of belly. And some of the times, the skin overlying this area is rather wrinkled.
So, if you think about a plum that changes to a prune, what happens? It gets dehydrated and shrivels. And so that's where the term prune belly comes from, is the appearance of a prune.
Dr. Mike Patrick: Got you.
Dr. Linda Baker: The second part of prune belly syndrome is that the muscle of the urinary tract is abnormal. And so, they have an incredibly dilated, poorly contracting urinary bladder. And the ureters that drain the kidneys to the bladder are also typically very dilated.
So, they can have reflux, and they can have some blockages of the urine coming out of the kidneys. So, this can translate to then having significant kidney problems associated with prune belly syndrome.
Then the third or last part of having prune belly syndrome is that since about 95% of the cases are males, the males will have undescended testicles.
So what maybe some people don't realize or appreciate is that actually, during embryonic development, during human fetal life, the testicles first form up close to the kidneys. And then they have to take this long journey to come all the way down into the scrotum. So, we call it descent, testicular descent.
And so children that have prune belly syndrome, this process doesn't occur properly. And so, typically, the testicles are actually still sitting in the belly. And so to help to aid fertility in future life, we will do surgery to help to bring the testicles down where they need to be in the cooler scrotum.
Dr. Mike Patrick: So, as we sum up those three things, just to sort of put it all together, we have a deficiency in abdominal muscle. So that's what causes that prune belly appearance. And then, there's abnormalities in the urinary tract system, in the bladder and the kidneys, and then the undescended testicles in males.
And those things are all present at birth, correct?
Dr. Linda Baker: Yes. And actually, it can even be seen in fetal life. So if the mother were to have an ultrasound during her pregnancy, oftentimes, the urine is so filling the bladder. It's so big that it can be seen on the pregnancy ultrasounds. And so, you can get the hint that the child might have prune belly syndrome even before the baby's born.
Dr. Mike Patrick: Sure. And you mentioned it was a rare condition. How common is it and who is affected?
Dr. Linda Baker: They estimated 1 out of 50,000 births. And as I mentioned, about 95% of the cases are in males.
Dr. Mike Patrick: Okay. And then, do we see a difference across ethnic backgrounds? Or is it pretty much the same with everybody being that rare?
Dr. Linda Baker: The statistics show that African-Americans are the ethnic population that tend to have it most frequently. But other than that, it's relatively well-distributed.
Dr. Mike Patrick: Sure. And then, what causes this if it's present at birth? Is this something genetic? Is it something in the environment, inside the uterus? What exactly causes prune belly?
Dr. Linda Baker: Dr. Mike, that's a great question. We actually don't know. And we have been doing a fair bit of research, actually. My group has been funded by the National Institute of Health or the NIH to study what causes prune belly syndrome. We're still working it out.
The good news is that we've actually identified two genes that we know can cause it. But this, unfortunately, still accounts for probably less than 8% of the cases, which means 92% of cases we still don't know. It doesn't mean that we'll never figure it out, but it does mean that research is really critical to help to find the cause.
Dr. Mike Patrick: It would seem with multiple systems involved, that it would be something in development. So, when the fetus is differentiating those organs and muscles, that perhaps something doesn't go quite as planned.
Dr. Linda Baker: Yeah, I think that that's probably spot on. So, the hypothesis that the muscle doesn't form right is one hypothesis. Another hypothesis that has been put forward is that there's actually a blockage of the outflow of urine from the body of the baby developing. So that urethral obstruction has been hypothesized. But if you were to actually check a large series of babies with that, they really don't show blockage.
Dr. Mike Patrick: Got you. There's another condition, we also have pediatricians and medical providers in the crowd, with posterior urethral valves, which gets really bad backup of urine and can cause all sorts of issues, including not enough amniotic fluid. And then, that can cause developmental problems. And the lungs aren't inflated enough because amniotic fluid usually goes down and kind of opens them up. But that's a whole different thing, correct?
Dr. Linda Baker: Yes and no. I mean, honestly, if you were to look at the pregnancy ultrasounds, in some ways, we really have a hard time distinguishing between does your baby have posterior urethral valves or does your baby have prune belly syndrome?
So, some people consider it that it could be a spectrum, but I actually don't think it is. If you ask me, I think it's two different entities. And there's several pieces of evidence that suggest that.
Dr. Mike Patrick: One of those, we've talked about sort of the signs and symptoms, the three big ones, but there are other organ systems that are also involved. And I guess that would also make you think it's something more genetic and developmental, as opposed to just urethral blockage.
So things like other musculoskeletal anomalies or problems with muscles, such as club foot. And I mean, there are other things, correct, that we see? It's not just those three things. Although, it's always those three things, but there's the possibility of others, right?
Dr. Linda Baker: Yeah. They say 40% to 60% of children with prune belly syndrome have other what we call organ systems that are affected by it. So there can be cardiovascular problems. There can be pulmonary problems, as you mentioned. There can be gastrointestinal or your guts. Or there can be, as you mentioned, orthopedic things. Like a high number will have hip dysplasia, scoliosis, club foot, as you mentioned.
So some of these problems can be really quite significant, and them in and of themselves can require newborn semi-emergent surgery to try to get the baby stabilized. So, yeah, they can be very complicated.
Dr. Mike Patrick: And all the organs systems, they can be involved. But it's those three things that we have been mentioning that is always present with prune belly.
Dr. Linda Baker: Yes, for the most part. I mean, the definition starts to get fuzzy when you start to talk about girls because, obviously, girls don't have testicles. But the general gist is that you have the lax abdominal wall and you have the dilated urinary tract.
Dr. Mike Patrick: So then how do you diagnose prune belly syndrome in a baby?
Dr. Linda Baker: So again, most of the time, I would say maybe at least 60% of the time, you get the hint that it's going on even before the baby is born, during the pregnancy ultrasounds. But then, after birth, once the baby is born, sometimes, the intensive care unit or the newborn nursery identifies that the belly is rather protuberant or enlarged. And then, when they go to do the testing and the imaging, they see that there's a large amount of urine in the bladder.
So once then that bladder gets emptied, because we really do worry when there's a lot of urine in the bladder. No matter what age the baby or the child or the adult is, we don't like for the bladder to always be full. And so, when you empty that urine out, then all of a sudden, what was kind of a rounded, distended urinary bladder now becomes this big, floppy, empty tummy.
And so, now the tummy might even look sunken and show the wrinkles a lot more. So usually it's a newborn physical exam at birth that really helps you to identify what's wrong.
Dr. Mike Patrick: So it's a clinical diagnosis. There's not a specific blood test or testing that you could do to say, yes, it is prune belly or no, it's not.
Dr. Linda Baker: Yeah. So at this time, there's not a specific blood test that will tell you, yes, your baby has prune belly syndrome. However, because nowadays, so many people, if they have a pregnancy ultrasound and there are problems identified on the pregnancy ultrasound, many individuals will have genetic testing to try to identify some causes.
And so, if you happen to get a positive test for one of the two genes that have been shown to cause prune belly syndrome, that can help to really cinch the diagnosis. But for the most part, it's just more of a physical exam, checking the belly, checking the ultrasound on the kidneys, in the bladder, doing a physical exam on the testicles that they're not down in the scrotum at birth.
Dr. Mike Patrick: And then once we come to the conclusion that a baby has prune belly syndrome, how then is this condition treated?
Dr. Linda Baker: So you kind of have to take a whole-body survey first. First and foremost, do a whole-body survey to try to identify what all might be up against you, to try to care for the child.
So as I mentioned, you want to check the heart, the lungs. Some of the babies, unfortunately, do not well at birth. They can survive in the uterus, but then once they're born, some of the babies won't make it. We estimate around 20% will die in the first two weeks of life.
And these tend to be the extremely severe cases. Whereas you mentioned if the urine doesn't come out of the bladder and circulate into the amniotic fluid during pregnancy, then that amniotic fluid, it's kind of funny, but you actually swallow and inhale amniotic fluid as a little fetus during embryonic life. And if that event doesn't occur properly, then the lungs don't form.
So the minute you're born and you're suddenly asking your body to be dependent on your lungs, then you can't. And so there's a lot of babies that, initially, at birth will require what we call intubation, where you put a breathing tube into their airway. You put them on a ventilator type of machine.
There's the conventional ventilator. And then for the babies that are really struggling, there's what we call the jet oscillating ventilator. So there's some of the babies that despite all these heroic events, we have hard decisions to make as to how to care for the baby.
Dr. Mike Patrick: In those more severe cases where then it leads to a problem with lung development, is there things that can be done surgically when the baby is still inside mom to maybe relieve the urine blockage and let the urine become amniotic fluid?
Dr. Linda Baker: So that's a great but complicated question. It depends somewhat on the time period of embryonic life when the blockage or the low amniotic fluid, we call it oligohydramnios, if that is identified. Then, if we catch it at the right time point in gestation or during the pregnancy, then some of the times, yes.
We can instill or place a tube, temporary tube, through the mother's pregnant uterus into the baby. That this tube is called a vesicle amniotic shunt. And it can actually then help to drain the urine out of the bladder and into adding more fluid to the amniotic fluid.
It's risky and it does work in many cases, but you have to be very selective and you have to understand the risks that go with this.
Dr. Mike Patrick: And really, that's true for so many things in medicine, that we really have to look at risk versus benefit.
Dr. Linda Baker: Of course.
Dr. Mike Patrick: And what's the right answer for one family may be a different answer for another family. And this is where joint decision-making really comes into play with families and medical providers.
Dr. Linda Baker: Exactly. Because the hope by doing that is, one, you improve their lung function. And two, that you help to preserve any kidney function that they have.
Because, although I haven't talked about it too much, the other big challenge for many of these really severe cases is that they can actually sometimes be born really in kidney failure or renal failure, as we call it. And so, if they have renal failure and lung failure, you've really got a lot, it gets grave.
Dr. Mike Patrick: Yeah, absolutely. So the babies who maybe have less severe, as they get a little bit older, what sort of management things are we thinking about?
Dr. Linda Baker: Yeah, so the positive of it then is that we have 80% of children that have prune belly syndrome that are going to likely survive. And so now, we have still a spectrum. So we have some babies or young children that are very mild and can actually do terribly well.
I know of individuals with prune belly syndrome that are PhDs and are pilots. And so don't take me wrong, many people can function and do incredibly well in life with prune belly syndrome.
The other really good news is that a high, high percent, over 95% have normal brains. So it's not like we're dealing with individuals that have developmentally challenged brains. So that's the best news of all, is that they can really do quite well.
But to get to your question of how do we take care of them, so we kind of group them depending on if they're a mild or a moderate or a severe categorized child. And so, a lot of the focus, again, goes back to the urinary bladder. Because if you don't empty your urine well, it can lead to back pressure up on the kidneys. And that can be in the form of reflux or even blockages of the urine coming out.
And even though you might be born with organ kidneys, if that damage is allowed to go on over the lifetime, then that can actually, over time, kind of nickel and dime you away and get you down to no kidney function.
The other big challenge is urinary tract infections. So many, many of these individuals struggle with that. And so we have to come up with ways to try really best to empty their bladder.
Some of the times some medications will work, putting the child on a timed urination schedule. It's kind of so funny, but many of these children don't feel that their bladder is full. They don't have normal sensations.
And so, you and I, we might be dancing and cringing and hunting for a bathroom because our bladder was full, but these children don't. They can just sit there and hold tremendous quantities.
So we have to instead tell them, "Your bladder is not going to tell your brain when to go pee. You need to go on the clock. You need to just set a timer and go pee about every two hours. And even though you've pushed once, you may have to push three times every time you're at the toilet to try to get it all out." So this timed voiding regimen is a really big important part of it.
Dr. Mike Patrick: Because otherwise, that urine again backs up and then ultimately can cause damage to the kidneys.
Dr. Linda Baker: Right. Of course, this works when the child is old enough that you can talk them into doing this, right? But then, okay, well, what do you do in the little baby that you can't say you need to go pee? Depends, some of the times, it's still such a major problem and a concern that we still have to do surgery.
So sometimes, we'll make a temporary connection or a hole in the bladder that's then attached to the skin. It's called a vesicostomy. And so then it just drips 100% of the time into the diaper. And so, that allows the child to be emptied and allows their kidneys to not have that back pressure and decreases urine infections.
Dr. Mike Patrick: And those infections, the more often that happens again, the more chance there is for kidney damage and kidney failure on down the line.
Dr. Linda Baker: Yeah. And it's really hard to kind of stay vigilant about that through the whole lifetime. But that's really what it takes if you want to keep you, your baby off of dialysis or kidney transplant. It's an everyday kind of thing.
And even in the nighttime, a lot of people kind of ignore the fact that you put your baby to bed maybe at 8:30 or 9, and then the child gets up at 6. Well, that's nine or ten hours. So that's a third or more of the 24 hours period. So it's really actually critically important to get nighttime drainage as well.
Dr. Mike Patrick: Yeah. And again, then having that hole that you make, especially when they're a baby. As they get older, those same kids, can the hole then be closed?
Dr. Linda Baker: Yes. So once we get signs that the child is showing interest and able to potty train. So, many times when a child is able to stool train or poop train on the toilet, they oftentimes will be able to also urine train. So we kind of look for that sign, is when it might be a good time to start considering it.
The other factor is that, most of the time, you don't want your six-year-old to go to school in diapers. So when you have a vesicostomy, that's an incontinent thing. And so we try to get the babies out of diapers at the same time as their other aged matched peers.
Dr. Mike Patrick: I think that there's probably a lot of parents out there listening to this and hearing our description. So if you put a hole through the bladder that comes out to the skin, that doesn't seem a lot different than just letting the urine go through the urethra to the outside. So there must be some sort of blockage there that's preventing that from happening, and that's why you have to put the hole there.
Dr. Linda Baker: So there's typically not a true blockage. But if you think about it, the reason that you and I don't just dribble urine out all of the time is because of a muscle that we call a sphincter. So there's a sphincter that goes around the urethra.
It's kind of like if you had a donut with the donut hole and you put the urethra through the donut hole, then if that donut were able to contract and squeeze, you use that sphincter to decide, when do I want to pee and let my urine out? And when do I want to relax that sphincter or tighten that sphincter and keep the urine inside of me?
So babies do that, too. I mean, any parent who knows, they'll put a normal baby diaper on and it'll be dry for a while until the baby passes its urine. So that sphincter is operational really early in life.
So that's part of the challenge in kids with prune belly syndrome is it's a combination of they have a working sphincter to hold the urine back and act kind of like a gate as to whether the urine is passing or not. But their bladder doesn't have the power or contraction strength to be able to push the urine out. So even though they open the gate with opening their sphincter, then it just might dribble and it might not all come out. So that's why we help out the bladder by making this temporary hole or vesicostomy.
So some of the kids, once you close that vesicostomy, then you obviously are asking them to try to urinate. And some will be able to urinate, but not get it all out. And that's the challenge, is like some of the times families struggle to understand that although the child passed urine, they may have only let 20% of what was in their bladder out. And they're still walking around with tremendous quantities of urine in their bladder.
So some of the times, for some of the children, we end up needing to help them get their urine out. And to do that, we oftentimes will need to use what's called a catheter. Catheters are just hollow plastic tubes. You can almost think of it like a straw.
And the idea would be to insert it in, drain the urine out, and then take it back out. And then, they go run and play and act normal.
So we kind of talked about that there's two ways to do that. There's insertion of a catheter through the penis, the pee hole, or urethral meatus, as we doctors call it. And you pass the catheter all the way up and into the bladder.
There are some patients that need this and we do it on them. But many of them can't feel the catheter going in. This is the real challenge for kids with prune belly syndrome because their sensation is normal. And so, it's not the most comfortable or pleasant thing to insert a catheter through their penis. Some do it fine and some really won't do it.
So some of the times we have to come up with an alternative pathway for the catheter to be passed into the body. And so one strategy is that we do a surgery where we actually detach the appendix from the intestines and we move it. And we sew one end of it into the belly button and the other end of it into the bladder.
And so the appendix is a long, skinny, hollow tube that when you have appendicitis, they take it out. You can live without it. But we use it, we move it and rearrange. And we use it as a little way, a passageway to pass the catheter in through their belly button to empty their bladder.
So this is a strategy that we sometimes do to help them to empty. It's kind of, in my mind, one of the last resort things. Like, I will try a lot, a lot of things before I ever go to doing another surgery to make this catheterizable channel. So I just wanted you to know that that is an option. It's called an APV or appendicovesicostomy and it's also called Mitrofanoff.
Dr. Mike Patrick: And as we think about those things, again, the reason that it's important is ultimately to prevent damage to the kidneys and kidney failure later on in life.
Dr. Linda Baker: Exactly. Because again, if you're just walking around with a liter of urine in your bladder at all times, it isn't good for your kidneys. And also it changes your body shape. And you've already got weak muscles on your tummy. And now, if you can imagine having a milk gallon sitting in your belly all the time, full, you're going to stretch what weak muscles you have in your tummy. So there's many reasons that you want to get the urine out.
Dr. Mike Patrick: Got you. And then, let's move on to the abdominal wall muscles. Is there anything that can be done to help the underdevelopment of the muscles?
Dr. Linda Baker: So that's a great question. Now, I will tell you that in many cases, it is rather cosmetically indicated to do the surgery. And it's obvious when you look at the child, that their other tummy doesn't look like a normal contour. But there's also this additional component to it, that you don't really realize what all your tummy muscles do for you.
But we doctors talk about the Valsalva. And so a Valsalva maneuver is anything that you kind of grunt and bear down to do. So, for example, when you cough, or if you're constipated and you need to really push to evacuate your stool, or if you're straining to pee and you really want to push hard.
These are some examples of things that you use your abdominal or your tummy muscles to do. So if you already have children that have lungs that don't work great and now that in and of itself puts them at increased risk for pneumonias. And then, they can't cough well, then these kids oftentimes will be more susceptible to recurrent pneumonias.
And if you had RSV, which is respiratory syncytial virus, most people can get over it and not have to come into the ER or come into the hospital. But some of these kids, you give them what would be a more simple cold or respiratory illness. And these kids, they can't tolerate it. They get super sick. And so some will have to be hospitalized just for that.
So to go back to the tummy muscle, then to really make a major difference in how well not only the tummy looks cosmetically, but also to try to improve the function of the tummy, then oftentimes we have to resort to doing reconstructive surgery.
The muscle is kind of interesting because the worst functioning area is kind of over your bladder. In other words, if you were to look under the microscope and look for where is muscle and where is not muscle, the best muscle is up toward your rib cage and off to the sides. Whereas from the belly button down to the genital area, that whole region, there's very little muscle.
So we surgeons will then do what's called an abdominoplasty. Or a lot of people call it a tummy tuck. Although most of the time when people typically think of tummy tucks, they're thinking of cosmetic surgery to remove fat. But we're actually doing more than that because we're rearranging, if there is muscle, we're rearranging that as well. And so we bring that downward with a relatively major surgery.
I mean, when I schedule children for abdominoplasty, 100% of them, I say, "You're going to be in the intensive care unit for one week at least, just to recover from this." Because it is a big surgery, we do a lot to really try to prevent any pain or discomfort. But we really need them to cough, we need them to do all these other things. So abdominoplasty surgery is a major event.
Dr. Mike Patrick: Yeah. And when you do that surgery, you're getting rid of the excess skin.
Dr. Linda Baker: Yes.
Dr. Mike Patrick: And do you move muscles around as well?
Dr. Linda Baker: So, as I mentioned, since the best muscle is kind of high and on the sides, we move that all downward and centrally, if that makes sense.
Dr. Mike Patrick: Yeah. And then that's going to allow them, once it heals, hopefully to be able to cough better and the important role that those muscles have to help them function correctly.
Dr. Linda Baker: Yes. The other thing I do want to mention is that there is another type of abdominoplasty that is done. And I think that there are some children that really benefit from it.
So we can actually take muscle from the leg. It's called the rectus femoris muscle, and we can detach it from the knee and flip it up underneath the skin and attach it up close to the belly button. And so now, we're actually bringing healthy, normal, working muscle up into the region where it's really rather deficient. So this is a really nice addition to abdominoplasty surgery.
Dr. Mike Patrick: This is going to get a little crazy, but if you move a muscle, then is there new nerves that you hook up to that muscle? Like, how would the brain know you're not moving your knee? That you're wanting to cough and tighten up your belly versus, now, you've got this knee muscle there?
Dr. Linda Baker: Yeah, that's a great question. So the good news is we, doctors, know a lot about where not just nerves, but also blood vessels, like arteries and veins. We know where they are.
And so we're kind of selective about which muscle we choose to move. And when we move it, we realize we can't cut those arteries and veins or the nerve. So only certain muscles would be possible even to use and still be working for an abdominoplasty.
About your question about the knee, so it's kind of funny, but if you and I sit here and try to tighten our muscle of our tummy, you don't really realize it, but you also kind of tighten your upper thigh muscles, which is where that rectus femoris muscle is living normally. And so, it actually makes good sense. And it's not so kind of hard to retrain the brain to use that muscle to help to tighten the muscle.
Dr. Mike Patrick: It's amazing how our brain or plastic in such a way that we can figure that out.
Dr. Linda Baker: Yeah, it's true,
Dr. Mike Patrick: For sure. And then, the final of the three main things that we see with prune belly in boys is going to be the undescended testicles. I would assume that those are going to be brought down to the scrotum. Is there a particular time when it's right to do that?
Dr. Linda Baker: Yeah, so that's a great question. So the recommendations from the American Academy of Pediatrics as well as the American Urological Association, is that for any child with undescended testicle, whether you have prune belly or whether you don't, any child is to have their testicles brought down to the scrotum by their first birthday.
And there's good logic behind that, number one, okay, I'm not going to talk about prune belly for just a second. I'm just going to talk about most kids with undescended testicles. So number one, we know that there are some children that are born with undescended testicles and they will actually come on down after birth.
And so we want to give nature a chance to do the job and get the testicles on down. But we've done a lot of big population studies that have shown that if the baby hasn't dropped the testicles by age six months of a term gestation, let's say, that if by six months they haven't come down on their own, they're not going to come down.
Okay, so then why do we wait till 12 months? So the biggest worry about not bringing the testicles down is that we know that there are cells inside of the testicle. They're called gonocytes, but really, they're baby sperm is what you could call them or think of them as.
And so these baby sperm, they're not full-fledged sperm at this age, but they're little babies. And so we want to save as many of them as possible. And there's this interesting phenomena that if the testicles are high at a higher temperature, then the baby sperm will start to die.
So somewhere two to three degrees cooler is what it is down in the scrotum. And that little temperature difference makes the difference in life or death for those baby sperm. And of course, baby sperm mean fertility, your ability to be a daddy.
So we know that the death of those baby sperms start around 12 months. So those two pieces of information together that we want to give nature a chance to drop the testicle. But if it hasn't done it by 12 months, then we really, and we don't want injury to the testicle, we really want to get as many baby sperm alive. Thus, we recommend that the testicles be brought down by 12 months.
So now, if we go to the prune belly syndrome population, we really don't want to do it any different. We'd really, really like to try to achieve that. But I'll tell you and as we mentioned, some of these babies are incredibly medically complex.
There are heart issues, there are lung issues. A few will have imperforate anus. A few will have to have hip surgery, kidney failure. There's other things that can delay the timing. First priority, save the baby. Then after that, if we can save the baby, then we get to do all these other more less emergent type of surgeries.
So the goal is one year, but some of the times we don't make that mark.
Dr. Mike Patrick: Given that the testicles are developing up by the kidneys and there's kind of a hit to this whole area, is there an issue with fertility even if you do bring the testicles down at the right time?
Dr. Linda Baker: Yes, probably. And it can get incredibly complicated. Many testicles that did not drop or descend spontaneously, the tubes that carry the sperm out are not normal.
So although the testicle itself might be able to make the sperm, the sperm has to get not only out of the testicle, through the tubes that drain into the penis, and then the penis ejaculate out. And so that whole process of just the pipes are an issue as well.
And it's a complicated thing because just the process of having what we call ejaculation, where a sexual stimulation, the semen comes out and doesn't. It's kind of funny, but the tubing is all connected to the bladder as well.
So you don't want the ejaculate or the semen to go backwards up into the bladder. You'd prefer for it to come out the penis and into the vagina, that type of thing. So for children that have prune belly syndrome, some of the times, once they become an adult and they're actually making semen and they're a man, some of the times, when they go to ejaculate, not all of the semen will come out through the penis. And instead, it will actually go backwards up into the urinary bladder.
So if you're talking about natural conceptions, natural pregnancies without doctors helping you to get pregnant, it's very challenging for adult men with prune belly syndrome.
But the good news is that we have many ways to overcome lots of these different obstacles. And so, so long as we can get healthy sperm from the testicle, we can do what's called IVF in vitro fertilization. Some people call it baby in a test tube. And we can help you to get pregnant.
Dr. Mike Patrick: In terms of the long-term outlook for these folks, if you do make it past childhood, you'd mentioned brains are normal. Does there continue to be health problems in adulthood as relates to the prune belly syndrome?
Dr. Linda Baker: Yeah. Many of these things that we just talked about don't go away. I wish that we could say that we had good ways to help their bladder to squeeze better. We're still working on that. We're trying to come up with, so I have a research laboratory here in Nationwide Children's. And we not only study the genetics of what causes prune belly syndrome because the hope is that if we can find the gene, then maybe we can create a drug that helps to correct that genetic defect.
And so maybe we can help the bladder to function better and empty better. But it is a lifelong condition. I wish I could say it would go away.
But it's probably safest to see a urologist and to get an ultrasound on your kidneys and bladder at minimum once a year. And the problem is that if you don't do that, you can slowly, through the years, lose your kidney function. And they say that over the lifetime, 67% of individuals with prune belly syndrome will go into kidney failure.
I mean, that's two out of three. That's a lot. And so you think, well, just peeing wouldn't stop that. But peeing on a time clock really does a lot.
Dr. Mike Patrick: And at that point, then they would need dialysis and possibly kidney transplant.
Dr. Linda Baker: Yes. And the challenge is that at birth, you start out with a certain number, a certain amount of kidney function, let's say. And most of us start out with 100%.
But if instead, if in life, when you're born, you started it out with only 50%, then you have this lifelong risk of not emptying your bladder well and getting urinary tract infections that can get in your kidneys and cause kidney infections, that can lose kidney function.
These can all add up across time. So these simple things of emptying your bladder really can go a long way to help to prevent that 67% renal failure.
Dr. Mike Patrick: Absolutely. As we think about a disease that begins really during development and that babies have when they come out of mom all the way up through adulthood, at some point they're going to need to transition from pediatric care to adult care. Or is this the kind of thing where a pediatric urologist continues to take care of them into adulthood? Sort of like we see with cystic fibrosis and for a while, congenital heart disease until that sort of became a specialty in the adult world.
So as we think about transitioning care, is this also a complicated thing for these families?
Dr. Linda Baker: It is. It's very complicated. I happen to work with the big family support group for prune belly syndrome. It's called the Pruner Syndrome Network, or PBSN. And I have had the honor and pleasure to work with them for about 13 years now.
And so the people who attend this network convention that we have at least once a year, at these conventions, I talk to people of all ages with prune belly syndrome. And so, some of the biggest challenges that these people will face is so their baby's sick or their teenager's sick and they go to the ER. And they see an ER physician.
And the families walk in and they say, my child has prune belly syndrome. And many times, unfortunately, they'll say, "Sorry, what? Prune belly what?" And it's not that the doctors are dumb. It's just I mean, we doctors are human. We don't know everything.
And so, probably one of the greatest challenges to transitional care is to find someone who has deep knowledge and understanding of all the nuances of how to best care for someone with prune belly syndrome.
So to answer your question, I don't think it's a bad thing to have places in the United States where you have experts who care for individuals of any age with prune belly syndrome. There are many urologists who take care of adults, who do know and know a fair bit about prune belly syndrome, but also think that you can have joint care, where you see your local urologist as an adult and you update them.
And then, maybe every so often, you go and you see a prune belly syndrome expert in the United States. So I think that you could come up with a combined care model that will solve many of the problems.
Dr. Mike Patrick: That makes sense. When you think about research in this area, you had mentioned looking for genes that may be associated with the development of prune belly. Are there other hot topics in prune belly research right now?
I must say that I am the only person in the United States who's funded by the NIH to do research on prune belly syndrome. So I can't say that we have a lot of places around the world that are doing a lot of prune belly syndrome research.
But there are many places that have worked on several areas. Number one, what we call quality of life. So our QoL, as we doctors call it. And so basically, it's where we ask the individuals with the disorder, how can we best help you to live your life to the fullest?
And so we, as well as a few other places in the United States, have done some work trying to get at that. And I think that we have an upcoming convention here in Columbus with the Prune Belly Syndrome Network. And so I plan to have a really intense session where we talk specifically about how can we, as doctors, best help you all.
The other areas of research in my mind really get to the abdominoplasty questions. So we don't have a good way to measure how weak is your belly and who does need surgery or who doesn't need surgery, and which surgery is the best surgery for it. So that's another hot area in my mind of where to focus some efforts.
And I've been so fortunate to have a team of physical therapists here at Nationwide and now a gait specialist here at Nationwide who is going to work with us, as well as the orthopedic surgeons to really focus in on that.
Some of the other aspects of prune belly syndrome are that some of the children will have a sunken breastbone. We call that pectus excavatum. And others will have ribs that are really flared outward away from their heart and their lungs. And it causes some cosmetic concerns. And so, we're working also to try to build a team of surgeons here that will address the cosmetic aspects of that.
Dr. Mike Patrick: You'd mentioned the Prune Belly Syndrome Network or PBSN. And they, actually, this summer are going to have an annual convention here in Columbus at the Hilton Garden Inn at Easton. And we'll put a link in the show notes to that group's website. And they'll have a lot of information about the convention. But that's an exciting thing. And I'm sure both providers and families will attend who are impacted by prune belly?
Dr. Linda Baker: Well, that's a great question. Right now, the purpose of the convention, as I see it, is kind of threefold. Number one, it's for family support, networking. And so, the individuals and the families that have this disorder oftentimes are financially devastated by trying to take care of their child with this.
So social supports are great, but also for the kids, the little kids who have it, so they realize they're not the only one in the world who has prune belly syndrome. So they can meet and get to know others with the disease. So kind of the social support aspect of it.
The second part of the meeting is to really try to educate the families on what I feel, and the others on the board of the Pruner Syndrome Network feel, are the important things to know on how to care for your child. Because you can't always find a prune belly expert in your local area. So we haven't had a session on the network conventions for healthcare providers.
We have healthcare providers come in and give lectures. But we haven't invited doctors to come and attend the meeting just to be like a participant and listen. But if people want to come, we can do that.
Dr. Mike Patrick: Yeah, absolutely. I would think that you'd learn something about prune belly because with these rare diseases, oftentimes, there aren't a lot of resources and support, even for primary care doctors.
Dr. Linda Baker: Exactly, yeah. The third part of the meeting, so we had the social networking. We had the education for families by lectures, by physicians who are going to talk about how prune belly manifests for their particular organ system.
And the third part of it is actually research. So we take the opportunity and invite individuals, families, people who have prune belly syndrome to attend and to participate in doing actual research while they're there. So we have a whole plethora of research studies that we're undertaking. Every year, we change them up a little bit. So even though you might have come to the convention a few years ago, please come again, because we're probably going to be doing something different than what was done in prior years. So it's those three things.
Dr. Mike Patrick: Yeah, absolutely. And again, we'll put a link in the show notes to the Prune Belly Syndrome Network or PBSN, and they'll have the information about the convention there for you. And this is going to be for Episode 534 over at pediacast.org.
You had also mentioned this shared taking care of kids in a shared fashion, where they may have a local urologist and then they may see a prune belly syndrome expert. We have those here at Nationwide Children's. Do we have folks who travel and come and see us here that may live far away?
Dr. Linda Baker: Yes. Just so you know, I recently moved to Columbus. For many years, I lived in Dallas, Texas. And by the many years of working with the prune belly syndrome, there were many people who came to see me in Dallas, Texas. So I've cared for over 50 individuals with prune belly syndrome while I lived there.
Now, patients are following me now that I've moved to Columbus. So people who live in faraway places are quite welcome to try to come and to be evaluated and see what we can do to help them receive the best care.
Dr. Mike Patrick: Yeah. And really, it's a multidisciplinary approach, especially if there's other organ systems that are involved, right? And here at Nationwide Children's, we have the kidney doctors and heart doctors and orthopedic doctors. And pretty much anyone that you're going to need to see would be able to kind of connect them here at our place.
Dr. Linda Baker: Exactly. Yeah. So in the short amount of time that I've been here, I've been able to really get a large group of individuals that have shown passion already for taking care of individuals with prune belly syndrome. So we're building a really great multidisciplinary team to be able to care for all of these conditions.
Dr. Mike Patrick: And I'd imagine that also includes behavioral health with psychology and also social work, because when you have a family impacted by a chronic illness, as you had mentioned, financial hardships are possible. Then also, as kids start school and maybe they're different than other kids and there may be mental health issues that would need to be addressed as well.
Dr. Linda Baker: Yes. Actually, at the Prune Belly Syndrome Network convention meetings, we've always had either a psychologist and or a psychiatrist come and give lectures and talk about taking care of a child that has a lifelong chronic illness. And it's just the little things like, did you take your pill or did you not take your pill today? And the children sometimes get tired of mom and dad always telling them, go pee, go pee, go pee. But you have to work through that, and I think that's really critically important.
Dr. Mike Patrick: Well, we really appreciate you stopping by today and educating all of us on a prune belly syndrome. We are going to have a link in the show notes for Pediatric Urology at Nationwide Children's Hospital so you can see more of what they do.
We also have an article, Prune Belly Syndrome in Children, from our Health Library, that's online.
And for the providers in the crowd, Pediatrics Nationwide also had an article called Five Things to Know about Prune Belly Syndrome, which would be a nice introduction. And if you are a primary care provider and you have a child with prune belly syndrome in your practice, certainly learning more about the disease and possibly attending the convention is possible. And again, we'll have links to all those things in the show notes.
So once again, Dr. Linda Baker, pediatric urologist at Nationwide Children's Hospital. Thank you so much for stopping by today.
Dr. Linda Baker: This is great. I really appreciate it. Thanks for your time.
Dr. Mike Patrick: And we are back with just enough time to say thanks once again to all of you for taking time out of your day and making PediaCast a part of it. Really do appreciate that.
Also, thanks to our guest this week, Dr. Linda Baker, pediatric urologist at Nationwide Children's Hospital.
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