SPEAKERS
SPEAKERS
Melanie Edwards, Dr. Richey
00:01
The DNA’s podcast series, Let’s Talk About Kidneys, provides education dedicated to exploring the journey of those living with chronic kidney disease. We’re here to inspire meaningful conversations and to help people living with CKD gain a better understanding of their disease.
Melanie Edwards 00:20
Polycystic kidney disease, or PKD, affects about 600,000 people in the United States. According to the PKD Foundation, it is one of the most common genetic kidney disorders. Yet many people don’t even know they have it until later in life. Today, we are joined by Dr. Daniel Richey, where he will break down what PKD is, how it’s diagnosed, and how people can live well with it. Dr. Daniel Richey joined Dallas Nephrology in 2011 Dr. Richey is board certified in internal medicine and nephrology. Dr. Richey is also a member of DNA’s PKD committee and a PKD specialist in Fort Worth. He currently sees patients at our Fort Worth location and our Fort Worth Harris Parkway locations welcome. So, how would it talk today about PKD, and what it is? Can you answer that for us?
Dr. Richey 01:10
Sure. So, PKD stands for polycystic kidney disease, and we actually use the term a lot of times, AD PKD, that’s important, it’s called autosomal dominant polycystic kidney disease, so this is a genetic or inherited disease of the kidneys, right? So people are born with this. The autosomal dominant part is important because I think people don’t realize if they have this, they have a 50% chance of this being transferred to their offspring, right. And so it’s actually a very common disease process, depending on the source you look at, anywhere from one in 400 to one in 1000 people have this disease. So, what it is, is from a very early age, people start to form these fluid-filled cysts within their kidneys, and it’s not one or two cysts, it actually turns out being hundreds and hundreds of cysts that form over the course of someone’s lifetime, and essentially over time these start to crowd out normal kidney tissue, and your kidney function starts to drop, probably about midlife, and then as time goes on, people can progress to kidney failure.
Melanie Edwards 02:21
Are there multiple types of PKD? I know you mentioned a couple.
Dr. Richey 02:24
Yeah, there are. So, the way we characterize PKD first is whether or not it’s autosomal dominant or autosomal recessive, and the vast majority of cases are autosomal dominant. So, that’s what we’d spend most of our time talking to patients about, and very rare to find the autosomal recessive form, but within autosomal dominant polycystic kidney disease, there’s two subtypes, there’s mutations in two major proteins, one is called Polycystin one, the other is called Polycystin two, and the reason we differentiate between those two is because the clinical course is different with each one, so for example, Polycystin one, which is about 85% of the mutations, these patients tend to progress to kidney failure a little bit earlier in life, so for example someone with a Polycystin one mutation may end up requiring dialysis in their 50s or 60s, whereas someone with a Polycystin two mutation, which is less prevalent, they sometimes can make it into their 80s and beyond without progressing to total kidney failure. So it’s actually very important that we are able to figure out which type of mutation these patients have
Melanie Edwards 03:43
Interesting, can someone have PKD and not know it?
Dr. Richey 03:46
In fact, most people find out by accident. So PKD is a very silent disease, especially early in life, and really that fits with a lot of kidney disease. You don’t know it unless you look for it, and so when we find PKD patients, assuming they don’t have a clear family history, where we are specifically looking in this patient, because mom or dad has the disease, a lot of times we find them by accident, because they show up early in life with high blood pressure, maybe some blood in the urine, or they get some sort of scan, you know, whether it’s a sonogram, CT scan, some sort of scan for any other reason, and they say, “Oh, by the way, you have a lot of cysts in your kidneys, right? So that’s a very common scenario where we end up finding these, these types of patients.
Melanie Edwards 04:38
What do patients notice? PKD progresses over time,
Dr. Richey 04:42
So the first thing I think the patient would notice would be usually high blood pressure, and that can be easily dismissed as something else, but as time goes on, the cysts enlarge, and there can be a lot of kidney-specific findings, so obviously blood work. Work over time will start to become abnormal, but as far as the things that patients themselves can notice, they can see blood in the urine. These cysts can sometimes rupture, that can be uncomfortable, that can cause a large amount of blood in the urine. The cysts can get infected, that’s rare, but that can be fairly serious, and patients will present with all signs of an infection, urinary tract infections are more common, and kidney stones are more common in PKD patients. So that’s kind of the kidney-specific manifestations of this disease. Now, because it’s a genetic disease, it covers you, actually get manifestations outside of the kidney as well. So probably one of the more common ones is patients get cysts in their liver as well, and that’s usually noted at the same time when we scan them and look at their kidneys. Those cysts in the liver don’t usually cause disease in the liver, but sometimes they can cause some discomfort as well. There can rarely be heart and brain manifestation, so in the heart we have these valves in our heart, and that helps blood move forward through the different chambers. With our PKD population, those valves can sometimes get a little bit leaky, and so it’s important that we monitor heart function and do heart-specific imaging on our patients, and then as far as the brain, some PKD patients, a very small percentage of them can develop aneurysms in their brain. So, an aneurysm is basically think of a balloon coming off of one of your arteries. In severe cases, those aneurysms or balloons can pop, and that can be, frankly, devastating. So, in our population of patients, we do tend to look at scans of the brain to make sure they don’t have these types of manifestations.
Melanie Edwards 06:50
How is PKD diagnosed, and should family members be treated or tested as well?
Dr. Richey 06:55
So, the diagnosis starts with some sort of imaging test, and, like I said earlier, these patients usually present with what we refer to as innumerable cysts throughout the kidneys, it’s not one or two cysts, so it’s usually very easy to identify these patients. Now, beyond that, we now have genetic testing that is readily available, and so before it was kind of a difficult, it was a chore to get people genetically tested, but nowadays we can do it in our office real time, and not only can we confirm the diagnosis, but like we talked about earlier, we can identify what their specific mutation is. Now, beyond just the imaging, we do something called disease stratification, and so we can kind of figure out how severe of a disease someone has based on both their genetics and based on what their imaging looks like. So, with the imaging, we’ll do measurements of the kidneys, because the larger the kidneys, the more likely the kidneys are going to progressively fail, and so we can measure the size, and that gives us at least some degree of prognosis on how the kidneys are going to do over time.
Melanie Edwards 08:08
Is there a cure for PKD?
Dr. Richey 08:10
There is not currently a cure for PKD. So all of our therapies right now are really focused on slowing down the progression of the disease, and that happens through multiple different pathways.
Melanie Edwards 08:24
Can lifestyle changes make a difference in PKD? And are there medications that we use for it?
Dr. Richey 08:29
Yeah, absolutely. So, lifestyle modifications, you know, for all kidney diseases are very important, and that’s basic stuff. You know, we maintain a healthy weight, control blood pressure, right, low salt diet, things like that, and they are constantly doing research on what diet might be best for polycystic kidney disease. The other thing we tell patients is actually heavy, heavy water intake has been shown to slow down progression, and, and this is probably much heavier water intake than most people are used to, but that’s a recommendation we make, and there are medications that we use to slow down the disease, and that goes from anywhere from a basic blood pressure medications called ACE inhibitors or angiotensin receptor blockers, they’re very common drugs, but they’ve been shown to slow progression of disease, and more recently we have a specific medication called Tolvaptan that does a pretty good job of slowing the cyst growth down pretty significantly. Not everybody is a candidate for that drug, and that’s why when we talked earlier about the risk stratification, we try to pick the patients who are at highest risk of progressing, so that we can get those patients on treatment sooner rather than later. And there are studies ongoing right now with new medications for this disease process. So, I think people need to stay tuned.
Melanie Edwards 09:55
What advice would you give a patient that’s newly diagnosed?
Dr. Richey 09:59
First, and most important thing is you need to see a nephrologist, a kidney specialist, but more importantly, that you need to see a kidney specialist who is specialized, for lack of a better term, with polycystic kidney disease, because there are a lot of nuances to the diagnosis, and then subsequent treatment, right, so you can actually go on the Polycystic Kidney Disease Foundation, and throughout the country there are centers of excellence for polycystic kidney disease, so you can find out where the best place to go for you to be to get diagnosed and get appropriately treated,
Melanie Edwards 10:38
And DNA is a Center of Excellence!
Dr. Richey 10:41
That is correct. Yes.
Melanie Edwards 10:43
Thank you, Dr. Richey, for your participation today, and for informing our patients and their families the understanding of polycystic kid disease. We always love having you on here.
Dr. Richey 10:52
Thank you.
Tiffany 11:12
Thank you for joining us today. For information about Dallas Nephrology Associates, please visit our website at D N E P h.com if you found our information helpful, feel free to share it with others who may also be affected by chronic kidney disease.