Polycystic kidney disease (PKD) Archives - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/ News Resources Fri, 12 Jul 2024 06:39:44 +0000 en-US hourly 1 https://wordpress.org/?v=6.9.4 Science Saturday: Confronting polycystic kidney disease, a silent killer https://newsnetwork.mayoclinic.org/discussion/science-saturday-confronting-polycystic-kidney-disease-a-silent-killer/ Sat, 12 Aug 2023 10:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=371148 When Fouad Chebib, M.D., was 16 years old, his father sat him and his sister down and told them he had polycystic kidney disease (PKD). The kidneys of people with the condition become jammed with dense, fluid-filled sacs, causing them to increase in size and decrease in function. His father's kidneys were already failing, and he would soon […]

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When Fouad Chebib, M.D., was 16 years old, his father sat him and his sister down and told them he had polycystic kidney disease (PKD). The kidneys of people with the condition become jammed with dense, fluid-filled sacs, causing them to increase in size and decrease in function. His father's kidneys were already failing, and he would soon have to begin dialysis. Eventually, his father's only hope for survival would come from a kidney transplant, a long shot in their home country of Lebanon.

Image of Fouad Chebib, M.D.
Fouad Chebib, M.D.

Rattled by the news, the younger Chebib logged on to their family computer to dig up all he could about his father's illness.

"I learned that Mayo Clinic is the best place to be for polycystic kidney disease," he said. "I decided right then that I'm going to cure this disease. I'm going to become a PKD nephrologist at Mayo Clinic."

Twenty-five years later, Dr. Chebib is a proud member of the large, multidisciplinary team at Mayo Clinic that remains the leader in PKD research. Their work continues to build the foundation of knowledge around this life-threatening illness while also developing innovations to advance care for the more than 1 in 1,000 people affected worldwide.

Over the next decade, those advances may enable clinicians to predict the disease before it starts and treat it with new medications. The goal? To make dialysis and kidney transplant for PKD a thing of the past.

The origins of the disease

Even though the term "polycystic kidney disease" goes back to the late 1800s, the first real breakthroughs in understanding its causes and potential treatments didn't come until the late 1900s. By the time the 16-year-old Chebib searched the internet for any mention of PKD, researchers had discovered the two genes responsible for the majority of cases, which they named PKD1 and PKD2.

Image of Peter Harris, Ph.D.
Peter Harris, Ph.D.

That first gene was discovered by geneticist Peter Harris, Ph.D., who moved to Mayo Clinic in 2000. Since then, Dr. Harris has built a program focused on identifying the many genetic mutations that cause PKD and their effect on the course of the disease.

He hosts an online repository of more than 2,000 common genetic variants associated with the autosomal dominant form of PKD, known as the ADPKD Mutation Database. It provides an important resource for investigators nationally and internationally who are studying and treating the disease. Autosomal dominant PKD (ADPKD), where only one parent needs to have the disease for it to pass to their children, is the most common form of PKD.

It is still not exactly clear how mutations in PKD1, PKD2 and most genes in the database cause PKD. But early studies have provided enough clues to enable Mayo researchers to identify the first potential drug for treating the disease. That research traced the growth and expansion of kidney cysts back to a cascade of intracellular events known as the cyclic AMP signaling pathway. Cyclic AMP has been shown to play a role in all aspects of PKD, including the initiation, progression and end stages of the disease.

Image of Vicente Torres, M.D., Ph.D.
Vicente Torres, M.D., Ph.D.

So when one study showed that targeting a molecule called vasopressin could effectively halt cyclic AMP production, nephrologist Vicente Torres, M.D., Ph.D., took notice. He launched a collaboration and a series of laboratory experiments and clinical trials, eventually showing that this strategy could slow the progression of PKD in patients. In 2018, FDA approved the drug tolvaptan for use in patients with ADPKD at risk of rapid disease progression.

Today, Dr. Torres and his colleagues continue to investigate the cyclic AMP pathway in search of new drug targets for PKD treatment. "This pathway is quite complex, and it involves a lot of different steps and different mechanisms," he said. "The rationale for our current work is we want to exploit that pathway because we know it is an open door, but it hasn’t been opened completely."

Predicting progression

Research has shown that for every four years a patient takes tolvaptan, the predicted onset of kidney failure is delayed by one year. But the drug has side effects that not everyone is able to tolerate.

However, not every patient with PKD will have the same experience or need to be treated with the drug in the first place. In fact, Mayo research has shown that the clinical trajectory of patients can vary widely, even within families. Some patients, like Dr. Chebib’s father, reach kidney failure in their 40s; others might not experience the brunt of the disease until their 70s or 80s.

Investigators at the Mayo Clinic and three other centers in the United States have followed 250 patients for more than 20 years through an observational study called the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP).

They found that the pictures they took of patient kidneys using MRIs held insights into the severity and progression of each individual patient’s disease. The researchers discovered that the size of the kidneys — specifically, an attribute known as total kidney volume — correlated with how rapidly kidney function was going to decline in the future.

In 2016, the discovery of a PKD prognostic biomarker also provided clinicians with a new tool to predict when kidney failure may occur and if they should recommend aggressive treatment.

"Our approach helps to identify the patients with the more severe, rapidly progressive disease, where the benefits of drug treatment clearly outweigh the risks," said Dr. Torres.  

Global diagnosis

Assessing total kidney volume, though incredibly informative, involves analyzing dozens of kidney images, one slide after another — a laborious process that can take about 45 minutes per patient. With the innovations developed at the PKD Center at Mayo Clinic, researchers now use artificial intelligence (AI) to automate the process, generating results in a matter of seconds. Dr. Chebib said that he and his colleagues want to tap AI to do even more to advance the care of patients with PKD.

They plan to create a web-based interface that enables physicians worldwide to upload their data — imaging data, clinical data, omics data like genomics and metabolomics — and receive an accurate diagnosis, prognosis and treatment plan on the other end. This virtual PKD center is part of the researchers' vision for sharing their expertise and technology on a wider scale by the year 2030.

"My father was my inspiration to be in this field," said Dr. Chebib. "He gave me a passion that drives me to make sure that no one would suffer from polycystic kidney disease, as he did."

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Mayo Clinic Minute: Using AI to predict kidney failure in patients with polycystic kidney disease https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-minute-using-ai-to-predict-kidney-failure-in-patients-with-polycystic-kidney-disease/ Thu, 06 Apr 2023 15:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=362878 Kidney failure can be caused by many reasons: diabetes, high blood pressure, autoimmune diseases and polycystic kidney disease, or PKD. PKD is an inherited disease that causes cysts to form around your kidneys. The most common form of PKD is autosomal dominant polycystic kidney disease (ADPKD), where it is most often diagnosed in adults between the ages […]

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Kidney failure can be caused by many reasons: diabetes, high blood pressure, autoimmune diseases and polycystic kidney disease, or PKD.

PKD is an inherited disease that causes cysts to form around your kidneys. The most common form of PKD is autosomal dominant polycystic kidney disease (ADPKD), where it is most often diagnosed in adults between the ages of 30 and 40. 

Dr. Fouad Chebib, a Mayo Clinic nephrologist and expert on polycystic kidney disease, says patients understand they face possible kidney failure. That's why researchers continue to innovate. 

Now, Mayo Clinic is using artificial intelligence to help predict a patient's progression with ADPKD. 

Watch: The Mayo Clinic Minute

Journalists: Broadcast-quality video (0:57) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

"For these patients with polycystic kidney disease, and namely ADPKD, half of them would reach kidney failure by their early 50s. And then 75% might reach kidney failure by their early 60s," says Dr. Chebib.

medical illustration of a normal kidney and a polycystic kidney

Advances in technology have allowed Dr. Chebib and Mayo Clinic researchers to use data differently.

"Using artificial intelligence, we're able to collect all these data from the imaging particularly, such as the total kidney volume. Now it's part of our clinical practice, where we can obtain the MRI or the CT scan, it goes through our artificial intelligence cloud and then comes back through our radiology team, and then gives us the exact numbers," he says.

Whatever the news might be.

"We can plug those numbers, adjust for age and obtain something called Mayo Imaging Classification, and predict with that the future kidney function — and when potentially they might reach kidney failure or maybe not reach kidney failure," says Dr. Chebib.

It's providing patients information to make decisions about their future. 

Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure by following a low-sodium diet, getting plenty of exercise, and avoiding tobacco and excessive alcohol use. 

For those who face progression toward end-stage kidney failure, it may be necessary to start kidney dialysis or a have a kidney transplant.

Related posts:


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Chain of transplants gives gift of life to Minnesota teacher https://newsnetwork.mayoclinic.org/discussion/chain-of-transplants-gives-gift-of-life-to-minnesota-teacher/ Thu, 14 Jan 2021 17:39:31 +0000 https://newsnetwork.mayoclinic.org/?p=292691 Nearly 100,000 Americans are on a waiting list to receive a kidney transplant. For one Minnesota woman, finding a match appeared to be hopeless. She had a 1 in 3,000 chance of finding a kidney that her body would accept. Waiting on the deceased donor list could have been a death sentence, but thanks to […]

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Nearly 100,000 Americans are on a waiting list to receive a kidney transplant.

For one Minnesota woman, finding a match appeared to be hopeless. She had a 1 in 3,000 chance of finding a kidney that her body would accept. Waiting on the deceased donor list could have been a death sentence, but thanks to a living donor transplant chain that spanned across the country, she has a new kidney and a new lease on life.

Reporter Jason Howland has the story.

Watch: Chain of transplants gives gift of life to Minnesota teacher.

Journalists: Broadcast-quality video (3:16) is in the downloads at the end of this post. Please "Courtesy: Mayo Clinic News Network." Read the script.

Amy Infanger is a 44-year-old math teacher and high school tennis coach in Osakis, Minnesota. She and husband, Bill Infanger, have two sons in college. She also comes from a larger, extended family ― one that has been greatly affected by a rare, genetic kidney disease.

"My mom has eight siblings in her family. And of the eight, six of them have needed a transplant or two. And, so, I knew that it was very likely I was going to end up with the same condition," says Amy.

She was diagnosed with the disease a few years ago.

"The patients develop cysts in their kidneys and sometimes other organs. And, eventually — typically in their 40s or 50s — they develop end-stage kidney disease. That means their kidneys no longer work," says Dr. Mikel Prieto, a Mayo Clinic transplant surgeon.

She would need a transplant.

"We found out in our initial screening at Mayo that Amy was highly sensitized. And it was just going to be really hard to find a match," says Bill. "And I had been screened to see if I could be a donor for Amy. They said, 'No, you can't.' But then they introduced us to the paired donor program."

Meanwhile, across the country in Arizona, Eric Cunningham was hoping to help a friend of a friend by donating his kidney.

"I was unable to be a direct donor for her. But I really felt the need to continue on, since I had already been approved to donate and was healthy enough to donate," Eric says.

Eric joined the National Kidney Registry, offering his kidney for paired donation with a stranger.

"And I was told that, 'Hey, we've got a match.' And it was mentioned that there was the possibility of being the first part in a large chain," he says.

A kidney transplant chain set into motion by Eric involved 16 people from coast to coast, including the Infangers in Minnesota and the top transplant centers across the country, including Mayo Clinic in Arizona, Florida and Minnesota.

"Getting a living donor was huge," says Amy.

As part of the chain, she received a kidney from someone in Boston. Her husband was the last link when he donated his kidney to a person in New York City.

"I think it is a game-changer. And I think it is the way we are going to be doing transplants in the future," says Dr. Prieto. "We were able to find the needle in the haystack: the kidney that was a match for her."

It was a match that maybe saved Amy life.

"By this person doing this for me, maybe I never have to have another one," she says.

"She will have a very good quality of life. Her life expectancy should be essentially normal like everybody else. I expect her to grow to a very old age," says Dr. Prieto.

"This person that you care about so much, their health is fading. And to have that behind us and to have that not be a part of our life anymore — hopefully if this continues to go well — is such a relief. And it's the best thing we could ever see," says Bill.

"To know that was kind of the beginning domino to start this whole thing, it's a really cool thing to think of the lives that are impacted and changed," says Eric. "I've got two good kidneys. Why not? Why not share one?"

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Mayo Clinic Q&A podcast: Dual surgery safe and effective for polycystic kidney disease https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-qa-podcast-dual-surgery-safe-and-effective-for-polycystic-kidney-disease/ Fri, 02 Oct 2020 12:02:50 +0000 https://newsnetwork.mayoclinic.org/?p=281151 A new study from Mayo Clinic, published in the American Journal of Transplantation, found that patients with polycystic kidney disease (PKD) can have dual surgery safely. This means patients with large polycystic kidneys in need of a kidney transplant can have their diseased kidneys safely removed at the same time as their transplant surgery, instead of […]

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medical illustration of a normal kidney and a polycystic kidney

A new study from Mayo Clinic, published in the American Journal of Transplantation, found that patients with polycystic kidney disease (PKD) can have dual surgery safely. This means patients with large polycystic kidneys in need of a kidney transplant can have their diseased kidneys safely removed at the same time as their transplant surgery, instead of having two separate procedures.

On the Mayo Clinic Q&A podcast, Dr. Mikel Prieto, a Mayo Clinic transplant surgeon and senior author of the study, explains the results of the study and the benefits of dual surgery for PKD.


Information in this post was accurate at the time of its posting. Due to the fluid nature of the COVID-19 pandemic, scientific understanding, along with guidelines and recommendations, may have changed since the original publication date

For more information and all your COVID-19 coverage, go to the Mayo Clinic News Network and mayoclinic.org.

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In the Loop: A Christmas gift to remember https://newsnetwork.mayoclinic.org/discussion/in-the-loop-a-christmas-gift-to-remember/ Tue, 15 Jan 2019 21:00:28 +0000 https://newsnetwork.mayoclinic.org/?p=226089 Mary Bauer had known for years that this day would come. The fact that it came on Christmas Eve was just a bonus. "It's just kind of funny that it worked out that way," she tells us. Symbolic timing aside, the lifesaving kidney donation that Mary gave her younger brother, Kevin O'Connor, at Mayo Clinic's Rochester […]

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In the Loop patient Kevin O'Connor and his sister Mary BauerMary Bauer had known for years that this day would come. The fact that it came on Christmas Eve was just a bonus. "It's just kind of funny that it worked out that way," she tells us.

Symbolic timing aside, the lifesaving kidney donation that Mary gave her younger brother, Kevin O'Connor, at Mayo Clinic's Rochester campus the day before Christmas is a gift he'll always remember and be grateful for. "I really can't put it into words," Kevin tells us. "There's no doubt there's a stronger bond between us now. And there's no question every Dec. 24 from now on will be special and a great new memory for us."

Read the rest of the story.

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This story originally appeared on the In the Loop blog.

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Father’s disease inspires son’s journey to find a cure https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researcher-motivated-to-find-cure-for-kidney-disease-after-his-fathers-battle-with-the-illness/ Wed, 21 Nov 2018 07:00:44 +0000 https://newsnetwork.mayoclinic.org/?p=222185 It's amazing how far some people will go to accomplish their dream. Dr. Fouad Chebib grew up in a small town in Lebanon. After finishing medical school in Lebanon's capital city, Beirut, Dr. Chebib chased his dream across the world to Mayo Clinic in Rochester, Minnesota. "I'm one of the kidney doctors," Dr. Chebib says. […]

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Dr. Fouad Chebib greeting his father at the airportIt's amazing how far some people will go to accomplish their dream.

Dr. Fouad Chebib grew up in a small town in Lebanon. After finishing medical school in Lebanon's capital city, Beirut, Dr. Chebib chased his dream across the world to Mayo Clinic in Rochester, Minnesota.

"I'm one of the kidney doctors," Dr. Chebib says. "I am a physician-scientist."

There was one reason big reason his dream involved becoming a nephrologist at Mayo Clinic.

"I have a very passionate interest in polycystic kidney disease," he says.

"So what happens is the patients who have this genetic defect or mutation will start forming kidney cysts," Dr. Chebib explains. "Those are fluid-filled sacs in the kidney. So as they are growing, the kidney starts to fill with fluid and ... grow and grow. They have multiple ... cysts, and that damages the kidney, leading to kidney failure."

It's a devastating diagnosis.

"So far, there has been no cure," Dr. Chebib says.

Watch: Mayo Clinic researcher motivated to find cure for kidney disease after his father's battle with the illness.

Journalists: Broadcast-quality video pkg (3:16) is in the downloads at the end of this post. Please ‘Courtesy: Mayo Clinic News Network.’ Read the script.

But for the first time, there is hope for patients with polycystic kidney disease: a new drug.

"It blocks the thirst hormone," he explains. "It's called vasopressin."

It's a breakthrough drug.

"The cyst doesn't grow as fast," he says.

Dr. Chebib was one of the researchers on the Mayo Clinic team that helped develop it.

"Someone called me when the FDA [Food and Drug Administration] approved the medication," he says. "I was giving a talk at the time and then, right after that, I called my father."

Behind every big dream there's always an inspiration.

Dr. Chebib's father has polycystic kidney disease.

"He was on dialysis for several years," Dr. Chebib says. "That impression of me seeing him sick inspired me to make sure that no one else would go through that."

His dream was born – and then likely saved – along with his father, who received a kidney transplant; something quite rare in Lebanon at that time.

"Without that kidney transplant, probably I wouldn't be a physician," Dr. Chebib says. "I wouldn't be in the United States. I would be doing something different. And, just to be blunt, he probably wouldn't be here without that."

With his father's health restored, Dr. Chebib didn't have to worry about providing for his family. He was able to focus on his medical education and coming to the U.S.

"It was easier to get to Harvard than to Mayo Clinic, initially," he says with a smile.

But, eventually, he did make it to Mayo Clinic.

And on a cold, rainy day in October he and his wife head to the Minneapolis-Saint Paul Airport to pick his parents up. They're visiting from Lebanon.

"[We are] kind of excited," he says.

It's the first time he saw them since the FDA approved the drug he helped develop.

It's also the first time they met their grandson, John Paul.

There were hugs and kisses all around, along with terms of endearment in Arabic. And there were plenty of tears.

"Tears of joy and excitement," Dr. Chebib explains.

As Dr. Chebib wrapped his arms around his father, who was holding his infant son, he recognizes a touching moment that might have never happened. Three generations that almost never met, now embracing in the baggage claim area of an airport.

"It's a proud moment."

Later in the day, back at his home in Rochester, he watched as his parents bonded with their grandson. The doctor inspired by his father and now finding inspiration in his son, reflected on what the moment meant for him personally.

"Without his inspiration — without seeing him go through very, very rough times — [I wouldn't be here right now]," Dr. Chebib says. "By making sure we find cures for this genetic disease, hopefully other people will benefit from that."

It's amazing how far some people will go to chase their dream. And with his family surrounding him, Dr. Chebib realizes just how worth it has been.

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Mayo Clinic Radio: Juicing and lectins / polycystic kidney disease / diseases of the hair https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-radio-juicing-and-lectins-polycystic-kidney-disease-diseases-of-the-hair/ Mon, 15 Oct 2018 20:49:49 +0000 https://newsnetwork.mayoclinic.org/?p=218447 As people search for ways to eat healthier and lose weight, juicing, sometimes called a "juice cleanse" or "juice detox," has gained popularity. Juicing is a term that refers to combining fruits and/or vegetables in a juicer or juicing machine to turn them into juice. While juicing may help you get the five to nine recommended servings […]

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As people search for ways to eat healthier and lose weight, juicing, sometimes called a "juice cleanse" or "juice detox," has gained popularity. Juicing is a term that refers to combining fruits and/or vegetables in a juicer or juicing machine to turn them into juice. While juicing may help you get the five to nine recommended servings of fruits and vegetables each day, that alone is not a balanced diet. Plus, there are drawbacks to juicing, such as losing the healthy fiber most fruits and vegetables have when eaten.

On the next Mayo Clinic Radio program, Katherine Zeratsky, a registered dietitian and nutritionist at Mayo Clinic, will discuss juicing, lectins and other diet trends. Also on the program, Dr. Fouad Chebib, a nephrologist at Mayo Clinic, will explain polycystic kidney disease. And Dr. Dawn Davis, a dermatologist at Mayo Clinic, will discuss diseases of the hair.

To hear the program, find an affiliate in your area.

Miss the show?  Here's you Mayo Clinic Radio podcast.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

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Man with world’s largest kidneys undergoes complicated transplant surgery at Mayo Clinic https://newsnetwork.mayoclinic.org/discussion/man-with-worlds-largest-kidneys-undergoes-complicated-transplant-surgery-at-mayo-clinic/ Thu, 27 Sep 2018 06:00:31 +0000 https://newsnetwork.mayoclinic.org/?p=216255 This is a story about genes and family. "My father had polycystic kidney disease," says Gene Okun. "We didn't know it at the time when we were young. Lo and behold, it came, and he ended up on dialysis." Gene has his father's genes. Some of them are good. "I was a bodybuilder for many […]

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PKD patient Gene Okun in his hospital bed prepared for surgery
This is a story about genes and family.

"My father had polycystic kidney disease," says Gene Okun. "We didn't know it at the time when we were young. Lo and behold, it came, and he ended up on dialysis."

Gene has his father's genes. Some of them are good.

"I was a bodybuilder for many years and a powerlifter," he says.

Some of his father's genes are not so good.

"The long and short of it is I inherited [polycystic kidney disease] from my father," Gene says. "[I] didn't know I had it [when I was younger]."

"The progression really was slow, and you don't really notice it every day," he says. "But it creates a lot of difficulties in my life."

Difficult is how life is when you have polycystic kidney disease.

"What happens is the patients who have this genetic defect or mutation will start forming kidney cysts," says Dr. Fouad Chebib, a Mayo Clinic nephrologist who is part of a team researching better treatments for polycystic kidney disease. "Those are fluid-filled sacs in the kidney. So as they are growing, the kidney starts to fill with fluids and kind of grow and grow. They have multiple ... cysts, and that damages the kidney, leading to kidney failure."

"In my situation, the average kidney is supposed to be the size of your fist," Gene explains.

But Gene's are quite a bit bigger. In fact, his kidneys might be the largest kidneys ever recorded.

"We're not quite sure how big because I can't do a full scan properly with dye," Gene says. "But the guess is that they're over 10 pounds each or more."

"It really kind of affects everything in my life."

Watch: Man with world's largest kidneys undergoes complicated transplant surgery at Mayo Clinic.

Journalists: Broadcast-quality video pkg (5:56) is in the downloads at the end of this post. Please ‘Courtesy: Mayo Clinic News Network.’ Read the script.

Gene says his oversized kidneys make him look pregnant. And even though his stomach looks huge, he isn't able to eat much because his kidneys leave little space for other organs such as his stomach to expand. The giant kidneys also make simple tasks like putting on his shoes difficult. They also can make it hard for him to find a comfortable sleeping position.

And the larger Gene's kidneys get, the worse they function.

And though he has his father's genes, Gene didn't want to end up like his father.

"[I] chose a different path," he says.

Instead of letting himself deteriorate until he had to go on dialysis, he decided to seek a kidney transplant. But for Gene and his massive kidneys, that was no small task.

"The doctors that I had gone to before, the surgeons had all given me different opinions on how they thought they were going to do this thing," Gene says.

Not satisfied with what he was hearing, Gene listened to someone who suggested he go see Dr. Mikel Prieto, a kidney transplant surgeon at Mayo Clinic in Rochester, Minnesota.

"We offered him to have the opportunity to have not only a kidney transplant, but at the same time take those large bothersome kidneys out," Dr. Prieto says.

Though Dr. Prieto acknowledged that Gene's kidneys were likely the biggest kidneys ever operated on, he had successfully performed the same operation several times before and was confident he could do the same for Gene.

"For me, that was a big deal because I had an uneasy feeling all the way along with where am I gonna do this," he says. "And who's gonna do it? And I didn't have comfort with either of those organizations, which are very good and world-renowned. But it wasn't until I came here to ... Mayo [Clinic] until I felt very good about this is where I'm gonna have the surgery done, and this is who's gonna do the surgery."

But Gene still needed a healthy kidney.

As a resident of California, he knew the average wait time for a kidney from a deceased donor was roughly seven to nine years. But at the rate his kidneys were deteriorating, he would be on dialysis long before that.

So he took a unique approach to finding a donor.

"The idea was to create a little bit of humor, and ... take a serious ... situation and put a little humor on it that would get people to look at it," he says.

The result was a series of comedic videos tracking the challenges of what he called "Gene's Big Dumb Kidneys."

And it worked.

"It's very moving to meet people and talk to people that they don't even know you, but they're willing to give a kidney," Gene says. "And not for money. Not for anything, but just because they have a good heart."

In the end, though, it was someone very close to Gene who ended up being the best match for kidney donation.

"I can only say it's probably God's hand because I looked for a long time," Gene explains. "And he's an amazing guy, an amazing individual, and a very unselfish person to do this for me."

Bill McNeese, a business colleague and one of Gene's closest friends ended up being almost a perfect match. But testing showed McNeese needed to drop some weight if he was going to be able to donate his kidney.

"I was a prime candidate for [a] heart attack," McNeese says. "So it motivated me to go back to the gym, which I did."

Luckily for McNeese, the guy hoping to get his kidney happened to be a former world-class bodybuilder.

"I helped him a little bit with some good diet tips and really kind of gave him an idea of how much cardio he would need to do to lose weight," Gene says.

A few months and 50 pounds later, two best friends lie in neighboring beds preparing to go into surgery.

And after McNeese dropped 50 pounds to get to this moment, both men wonder how many pounds lighter Gene will be when he comes out of surgery.

"I'm guessing it's going to be around 34 or 35 pounds," Gene says. "And they're going to add his pounds back in. There' a pool online right now. We've got – I don't know – I think over 100 guesses so far."

Before being taken back for surgery, Gene is thankful for his friend's sacrifice and ready to get the surgery over with.

"Say goodbye to Big and Dumb," he says, using the nicknames he has given to his giant kidneys.

Meanwhile, McNeese is reflective about his role in changing Gene's life.

"It's an arduous process, but probably the most worthwhile things I've ever done," he says.

Soon after, Gene is rolled away to the operating room to begin the extensive and tedious process of removing both of his diseased kidneys, and replacing them with one of McNeese's healthy ones.

For 12 hours, Dr. Prieto felt his way around the inside of Gene's abdomen.

"With a laparoscopic procedure, we have freed [the kidneys] out from all the surrounding structures," Dr. Prieto explains. "We have stapled across the artery. We have stapled across the vein. So they are free-floating inside. And at this point, they need to come out, and for them to come out, we need to drain a lot of the fluid out. And sometimes that's kind of a little bit of ... an aggressive approach because those kidneys, they are hard to get out. And then only by poking a lot of cysts – most of the time I do it with [my] hands – I manage to get them out."

It takes more than six hours to get both of Gene's kidneys drained and removed.

Then Dr. Prieto moves to a second operating room close by where his team has begun removing McNeese's healthy kidney. Once they have it out, they work quickly to get it prepared to transplant into Gene. When it's ready, they place it in a bowl and roll it on a cart over to Gene's operating room, where he remains under anesthesia.

It takes several more hours to get the healthy kidney properly transplanted into Gene.

Two days later, sitting in a hospital room, Gene reflects on the first moments after he woke up after surgery.

"Just opening my eyes after that kind of thing was amazing," he says. "I felt like I'm alive. And then the next thing was I have a new kidney in me and my stomach was completely flat. I could see my feet, and I was just blown away."

Because of how huge his kidneys had gotten, it had been a long time since Gene could see his feet. But with the kidneys removed, he was getting a new perspective on life and his body.

"I'm feeling amazing," he says. "I can feel it. I feel like I have more energy. And, I mean, this is only two days out of this long, 12-hour surgery. And I've been walking up and down the halls. I can't tell you how good it feels. It's life-changing."

He's emotional as he thanks his friend, Bill McNeese, for giving him this life-changing gift.

"Knowing that I'm not going to be on dialysis is just a very big blessing," Gene says. "And, obviously, my hero made it possible.

But McNeese is only one of Gene's two heroes. The other is Dr. Prieto.

"One surgery, one day," Gene says. "Two big kidneys out, one kidney in. Same guy doing the surgery. That's a superhero right there."

Dr. Prieto is equally impressed by the resilience of a patient who might have had the biggest kidneys ever.

How big?

"I think we had on the ... suction canisters about 19 liters of fluid, and that doesn't include all the stuff we took out, like through the wound and so forth," Dr. Prieto says "So they were very large."

So after removing 19 liters of fluid and the actual kidneys, you might wonder who won the pool on how much weight Gene would lose in the surgery.

"Believe it or not, Billy won the weight bet," Gene says, pointing to McNeese.

"I actually weighed in this morning at 236 from 286. So 50 pounds came off," Gene says. "And I'm actually holding water from the fluids they've been pumping into me."

This is a story about Genes and family.

"It all starts from somebody stepping forward and saying they're going to save a life," Gene says. "And, selfishly, I'm grateful for that. I love you, buddy."

"I love you too, bro," McNeese says.

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Mayo Clinic Minute: Mayo-researched drug becomes first approved to treat polycystic kidney disease https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-minute-mayo-researched-drug-becomes-first-approved-to-treat-polycystic-kidney-disease/ Mon, 17 Sep 2018 06:00:30 +0000 https://newsnetwork.mayoclinic.org/?p=215294 Polycystic kidney disease is one of the leading causes of kidney failure. "So far, there has been no cure," says Dr. Fouad Chebib, a Mayo Clinic nephrologist. But for the first time, there is hope: a drug called tolvaptan that the Food and Drug Administration recently approved for treating polycystic kidney disease. Watch: The Mayo […]

The post Mayo Clinic Minute: Mayo-researched drug becomes first approved to treat polycystic kidney disease appeared first on Mayo Clinic News Network.

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Polycystic kidney disease is one of the leading causes of kidney failure.

"So far, there has been no cure," says Dr. Fouad Chebib, a Mayo Clinic nephrologist.

But for the first time, there is hope: a drug called tolvaptan that the Food and Drug Administration recently approved for treating polycystic kidney disease.

Watch: The Mayo Clinic Minute

Journalists: Broadcast-quality video pkg (0:59) is in the downloads. Read the script.

Polycystic kidney disease is caused by a genetic mutation passed down from parents.

"The patients will start forming kidney cysts,"  Dr. Chebib says. "Those are fluid-filled sacs in the kidney. So as they are growing, the kidney starts to fill with fluids ... They have multiple, multiple cysts, and that damages the kidney, leading to kidney failure."

But, he says, there is new hope for what has always been a difficult disease.

Dr. Chebib, who was on the Mayo Clinic team researching the drug, says it's not a cure, but it can slow the disease's progression.

"It blocks the thirst hormone," he says. "It's called 'vasopressin.' So, by blocking the thirst hormone and its effect on the kidney, we block the cyst from forming more ... fluids. So what happens is that the cyst doesn't grow as fast."

And slowing the disease means patients won't need dialysis or need a transplant until they are much older.

The post Mayo Clinic Minute: Mayo-researched drug becomes first approved to treat polycystic kidney disease appeared first on Mayo Clinic News Network.

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