A comprehensive review published by Mayo Clinic researchers advances the understanding of Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common inherited form of kidney disease and the fourth leading cause of kidney failure worldwide.

Published in the Journal of the American Medical Association (JAMA), the review advances the understanding of ADPKD, which accounts for 5-10% of kidney failure in the U.S. and Europe. Its prevalence in the U.S. is 9.3 cases per 10,000 people.

"This is a vital resource for healthcare providers to stay informed about the latest diagnostic tools and treatment strategies to enhance patient care," says Fouad Chebib, M.D., a Mayo Clinic nephrologist and first author of the review. "It covers how the disease disrupts the normal functioning of the body, signs and symptoms of the disease, diagnosis, treatment and the likely outcome, equipping healthcare providers to manage this complex condition, improving the quality of life through timely, evidence-based care."

Physicians typically diagnose ADPKD in patients who are between the ages of 27 and 42. The disease causes fluid-filled cysts to grow on the kidneys, leading to kidney failure. Over 90% of people over age 35 diagnosed with ADPKD also present with multiple liver cysts, which can cause discomfort or pain.

ADPKD symptoms can vary from person to person. Some people may not have any symptoms, while others may experience high blood pressure, pain in the back or side, blood in the urine, frequent urinary tract infections and kidney stones. 

Hypertension affects 70-80% of people with ADPKD, and 9-14% of them develop brain aneurysms (a weakened and bulging area in the wall of a blood vessel), which have a low rupture rate.

A change in one of two genes, PKD1 (78%) or PKD2 (15%), causes most cases of ADPKD. If a person has one of these changes, they have a 50% chance of passing the condition on to their children. However, 10-25% of people have a genetic alteration not inherited from either parent.

The review provides practical guidance on managing blood pressure, sodium intake, hydration and lifestyle changes to delay complications such as kidney failure, liver cysts and hypertension to slow disease progression.

A key tool in managing the disease is the Mayo Imaging Classification (MIC), which predicts the severity of the disease based on a person's kidney size and growth rate. Higher MIC classifications indicate faster growth and an earlier need for kidney replacement (dialysis or kidney transplantation). Roughly half of ADPKD patients need kidney replacement therapy by age 62.

The review also explores the use of novel therapies, such as the drug tolvaptan, recently approved by the Food and Drug Administration to slow kidney function decline for high-risk adults at risk of rapidly progressing ADPKD.

"This drug improves care and paves the way for future therapies that enhance the quality of life and delay kidney failure," explains Neera Dahl, M.D., Ph.D., Mayo Clinic nephrologist and senior author of the review.

The review recommends that a kidney specialist who manages patients with ADPKD should share decision-making with the patient regarding genetic testing, treatments, monitoring and aneurysm screening. This collaborative approach recognizes the importance of the physician's medical expertise and the patient's values, preferences, and goals. It also says patients with ADPKD should be aware of the symptoms of ruptured aneurysms (sudden, severe headache) and the need for immediate medical attention should they experience those symptoms.

Review the study for a complete list of authors, disclosures and funding.

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While hay fever alone may not be life threatening, it can be uncomfortable, says Dr. Arveen Bhasin, a Mayo Clinic allergy and immunology expert. She offers these tips for relief from spring pollen and allergies and tells you when it's time to see an allergist.

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"If you're prone towards allergies, you develop an antibody called IGE to that particular allergen. When you're exposed to that allergen, it causes the release of histamine and these other mediators," says Dr. Bhasin.

And that is when spring's unfurling can feel downright bad. The first step is to control your exposures, says Dr. Bhasin.

Some of those environmental control measures include keeping windows at home, in the car and at work closed.

"If it's a dry and windy day, the pollen is blowing. You want to run the air conditioning because, that way, you're recirculating the clean air," she says.

For regular allergy sufferers, start your medication a couple weeks before the season starts.

"First-line treatment is what we call oral antihistamines that help with some of the itching, running, sneezing. And the nasal spray is really helping to focus on some of the congestion and the runny nose," Dr. Bhasin says.

Saline solutions using distilled water are also helpful.

And if these tips don't help? Dr. Bhasin says that is the time to make an appointment.

"The best time to engage an allergist is really when you've tried all the environmental control measures that you can, and you've tried over-the-counter medications, but you're still symptomatic," says Dr. Bhasin.

Using saline solutions or a neti pot

Saline irrigation solutions can be purchased ready-made or as kits to add to water. You can also use a homemade solution. Look for a squeeze bottle or a neti pot — a small container with a spout designed for nose rinsing — at your pharmacy or health food store.

To make up the saline irrigation solution, do not use tap water, as it can contain organisms that could cause infection. Use water that's distilled or sterile. You can also use water that was boiled and cooled. Another option is using water that has been filtered using a filter with an absolute pore size of 1 micron or smaller.

To prevent infections, wash the bottle or pot with hot soapy water and rinse it after every use and leave it open to air-dry. Do not share a container with other people.

Related posts:

• Mayo Clinic Q and A: Is it allergies or a sinus infection
• Mayo Clinic Minute: How to manage hay fever allergy symptoms
• Mayo Clinic Minute: How to get spring allergy relief

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DEAR MAYO CLINIC: One of the biggest things I have missed since my office went remote is going on walks with my coworkers throughout the day. With so many added responsibilities at work, I can hardly find time to leave my desk. How is all this sitting affecting me? How can I find a balance?

ANSWER: We understand the reality is that people have less and less time to exercise. While exercising before or after work is extremely important, it is just as important to stay active throughout the day. You may be surprised to hear that sitting for eight or more hours a day is comparable to smoking a pack of cigarettes a day in terms of heart risk. Sitting for too long throughout the day is one of the major risk factors for heart disease, cancer and many medical conditions. The solution? An active office can empower you to break out of a sedentary lifestyle. 

An active workstation is essentially a desk where you are not sitting. This can mean a standing desk or one where you move around, such as biking, walking or using a step machine. An active workstation has many benefits. The main benefit is that it allows the user to be productive while burning calories at the same time. Walking pads or treadmills allow you to walk at a slow speed and answer emails, work on a project or participate in a video conference call.

An active workstation does not mean that you need to be moving all the time. And you don't have to be active for too long to reap the benefits of activity. It has been shown that even when you are standing, you are more likely to be spontaneously mobile than when you are sitting. This is important to keep in mind. Overall, sitting for less than three or four hours throughout the day is a good goal for those who are able.

Another concept that is gaining popularity is the idea of "snack" activities. A "snack" is doing something for two or three minutes after sitting for an hour. This helps you break the sedentary status of your body by taking the stairs for a few flights, doing some pushups or something meaningful in terms of activity for just a few minutes, and then coming back and continuing your work. These little episodes of activity reset your metabolic clock. Activity snacks can cause significant biological changes in your cells, metabolism and cholesterol. You may notice your mind feeling sharper for the next half hour. 

While "activity snacking" is an affordable way to implement movement into your daily routine, you don't need a lot of money or a big investment to switch up your office furniture. There are some adapters out there that you put on top of your desk to raise or lower your monitor or laptop computer, allowing you to stand. Some people get creative and use a stack of books or other existing items. The bottom line is that everyone should feel motivated to redesign their home offices in order to be active longer throughout the day. This leaves us with less room for excuses. And, if you have days where you’re stuck going into the office, you still have options. Consider taking the stairs instead of the elevator. — Francisco Lopez-Jimenez, M.D., Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.

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March is National Kidney Month, observed annually to raise awareness about kidney disease and promote kidney health. According to Dr. Ivan Porter II, a Mayo Clinic nephrologist, adding too much salt to your diet is not a good thing, and it can increase your risk of chronic kidney disease.

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Your kidneys balance the amount of sodium in your body. If you're getting too much, it builds up in your blood. Your heart works harder to pump and increases blood pressure, raising the risk of heart disease, stroke and kidney disease.

"Chronic kidney disease — that's the way that we describe what occurs when the kidney has issues with filtering wastes and toxins from the blood," says Dr. Porter.

Sodium is added to most processed foods. It's also in a lot of condiments. "So it's very easy for us to get way more sodium than we need. And it's very easy for us to get a dangerous amount of sodium that has some impact on our blood pressure or our overall health," he says.

The recommended daily limit of sodium is 2,300 milligrams, or about 1 teaspoon. Dr. Porter recommends reading food labels. And cut back on the saltshaker by using salt-free seasonings.

"Sometimes you can either stop or reverse some of the initial damage that happens with chronic kidney disease. The longer that the process goes on, the more severe it is, the less likely it is to be able to get back to healthy kidneys. And that's when we have to think about things to replace kidney function like dialysis or transplant," he says.

Additional resources:

• Mayo Clinic Minute: Is Himalayan sea salt a healthy alternative?
• Mayo Clinic Minute: Are you using a salt substitute?
• Mayo Clinic Minute: Hold the salt to help your heart

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Traditional skin allergy patch testing can be cumbersome and time-intensive, often requiring patients to make multiple return visits to a clinic for analysis. However, a new artificial intelligence (AI)-powered solution offers a faster and more accurate way to diagnose skin conditions from a patient's own home. Discover this innovative approach on the latest episode of Tomorrow's Cure.

The episode features Dr. Charles Bruce, chief innovation officer at Mayo Clinic in Florida and Dr. Alison Bruce, dermatologist at Mayo Clinic. Together, they are reimagining the future of skin patch testing.

The doctors have developed an app powered by an AI algorithm that enables patients to capture images of their own skin. The app then analyzes patch test results, which are validated by a healthcare professional to ensure the assessments are accurate.

The typical patch test is a lengthy, five-day process. Patients must visit a clinic to have the patches applied, then return on the third and fifth days for result readings, making the procedure time-consuming and inconvenient. The AI approach eliminates the need for multiple clinic visits, saving time for both patients and clinicians.

"The way that we are now approaching it is developing a better way to do this," said Dr. Allison Bruce.

This new method offers significant potential for both simplifying the process and expanding access to skin patch testing. Additionally, the app is designed to recognize diverse skin tones, delivering more accurate and personalized results.

"This is what's so exciting about the ability to bring skin patch testing to the community and to allow people who otherwise would not have access to skin patch testing to test for potential allergens," said Dr. Charles Bruce.

Check out the new episode of Tomorrow's Cure to learn how this cutting-edge technology is making patch testing easier, faster and more accessible for everyone. To see a complete list of episodes and featured experts, visit tomorrowscure.com.

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DEAR MAYO CLINIC: It seems like no matter what I do, I can't lose weight. Most of my family members struggle with their weight too. Do our genetics play a part in this?

ANSWER: It's important to understand that we are all unique and gain weight for many different reasons. When trying to understand weight gain and why some of us have difficulty losing weight, there are factors such as gut and brain connections, how we control our sensation of hunger and fullness and how long we stay full. Over a decade of studies at Mayo Clinic have helped identify characteristics that can be associated with groups of people called obesity phenotypes. 

Each phenotype has a single genetic predisposition (an increased likelihood of developing obesity based on a person's genetic makeup) and interacts differently with their environment. In many environments we see today, there is an excess of food, and we're less active than before. Some people may feel hungry between meals, while others only have one big meal a day — our genetics drives this. Your genetic makeup determines which phenotype you're going to have. These phenotypes can help guide treatment for weight loss. Each of these genetic phenotypes, or genotypes, identifies the type of obesity and which medication would work best. 

The first phenotype is what we call "hungry brain." These patients start eating and don't feel full even after consuming large meals with second and third helpings. Usually, this runs in families. The other phenotype is what we call "hungry gut." These patients start eating and feel full after their usual portion, but the gut does not send those signals to the brain. Because of that, they feel hungry between meals. Signals from the gut to the brain are hormones, such as glucagon-like peptide-1 (GLP-1). Semaglutide medications such as Wegovy, Ozempic and Rybelsus work on behalf of the GLP-1 hormone. They connect between the gut and the brain, and they signal to the brain that you're full. 

Patients who have emotional hunger are another group. Whether having a good or bad day, these patients look to cope with life by eating food. The fourth group is patients with a "slow burn" or abnormal metabolism where the body does not burn all the calories they consume. 

Looking at these four phenotypes can help individualize obesity therapy. How genes correlate with an obesity phenotype can help determine which medications should be prescribed. Each of us also should have a unique diet approach based on our genotype and phenotype. Many diets have mainly focused on obesity-related complications, such as managing Type 2 diabetes or preventing heart risk, but none have been customized to phenotypes. The concept of the phenotype-tailored diet came from multiple studies that showed metabolic benefits during and after the diet plan began. These findings were then matched to each phenotype to define recommended diets.

At Mayo Clinic, we work closely with our colleagues in bariatric surgery through endoscopic procedures to find out, based on our genetics, how we can identify who will be the most responsive to each course of action. We want to bring precision medicine as we have for any other disease, and I think it's time we do the same for obesity. — Andres Acosta, M.D., Ph.D., Bariatrician, Gastroenterologist, Mayo Clinic, Rochester, Minnesota

The post Mayo Clinic Q and A: Weight loss and genetics appeared first on Mayo Clinic News Network.

Check out a few of the most popular News Network stories on @mayoclinic social media this past week.

Mayo Clinic recognized as 'World's Best Hospital' by Newsweek for the seventh straight year

Mayo Clinic has again received the No. 1 ranking in Newsweek's list of the "World's Best Hospitals." This is the seventh straight year Mayo Clinic has received the top ranking.

"This continued recognition is a tribute to our dedicated staff who consistently deliver unparalleled, compassionate care to our patients," says Gianrico Farrugia, M.D., president and CEO of Mayo Clinic.

Mayo Clinic Minute: Sleep and heart health

Does how much you sleep affect your heart? According to health officials, adults who sleep fewer than seven hours each night are more likely to experience health problems.

Dr. Juan Cardenas Rosales, an internal medicine physician at Mayo Clinic, stresses that adequate sleep is crucial for your overall well-being, including your heart health.

Mayo Clinic Minute: Know the warning signs of hypertrophic cardiomyopathy

It's often silent but can be a deadly killer. Hypertrophic cardiomyopathy is a genetic condition that occurs in 1 in 500 people.

Dr. Said Alsidawi, a Mayo Clinic cardiologist, says the problem is that many people don't even know they have it because they have no symptoms. And in many cases, the first presentation is sudden cardiac death. 

Researchers find caregiving worsens menopause symptoms

In a first-of-its-kind study, Mayo Clinic researchers found that women 45–60 years old who are managing family caregiving and menopause face nearly double the risk of moderate to severe menopause symptoms. Women in the sandwich generation are especially affected. The sandwich generation is a term used for people who often juggle caring for both children and aging adults, balancing responsibilities like feeding, cleaning and medical care.

New drug may reduce need for aortic valve surgeries by slowing disease progression

Researchers at Mayo Clinic are exploring the use of a new drug called ataciguat to manage aortic valve stenosis. Results from preclinical and clinical studies, published in Circulation, show that ataciguat has the potential to significantly slow disease progression. The final step to establish the drug's long-term effectiveness and safety is a phase 3 trial, and efforts to launch that pivotal trial are soon to be underway with an industry partner.

The post In case you missed it: This week’s Top 5 stories on social media appeared first on Mayo Clinic News Network.

Mayo Clinic Minute: What high triglycerides mean and why it matters to your heart

You may be familiar with high-density lipoproteins (HDL), or good cholesterol; low-density lipoproteins (LDL), or bad cholesterol; and their connections to heart health. But what about triglycerides? Often that word gets skimmed over when talking about cholesterol levels.

Dr. Regis Fernandes, a Mayo Clinic cardiologist, says triglycerides provide the body with energy from food. High levels can indicate signs of other conditions, like diabetes or prediabetes, that can increase the risk of heart disease and stroke.

5 things to know about fainting: The heart's role and when it may signal a serious condition

You may have heard that people who feel faint should sit with their heads between their knees, but is that true? And how can you tell whether you or someone else who has fainted should go to the emergency department or perhaps even see a cardiologist? ⁠
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Dr. Elijah Behr, a cardiologist at Mayo Clinic Healthcare in London, explains five things it is important to know about fainting.

Mayo Clinic Q and A: 5 things to know about stroke

A stroke can happen at any time and to anyone. You might be talking to your loved one and notice they're suddenly slurring their words. Or, while grocery shopping, you realize you can't move your hand to pick up a jar from the shelf. You can go from feeling as usual to feeling sick within a matter of seconds to minutes. Here are five key things to know about stroke.

Hope for ovarian cancer: New immunotherapy target

In a study published in Science Advances, Mayo Clinic researchers found a new immunotherapy target called a cryptic antigen that may be key in helping the immune system fight tumors in ovarian cancer.⁠
⁠
Cryptic antigens are part of a protein — known as epitopes — that are usually hidden or inaccessible to the immune system and may be present in tumor cells.⁠
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Researchers will explore cryptic antigens in designing new treatments, such as vaccines or immunotherapies, that could help the immune system target tumors more effectively. ⁠

Mayo Clinic Q and A: Struggling with IBS symptoms?

Irritable bowel syndrome (IBS) is common and affects approximately 1 in 10 adults in the U.S. IBS is characterized by abdominal pain with disordered defecation (constipation, diarrhea or both). IBS can generally be easily treated with a combination of education, reassurance, diet and medications.

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Dr. Ekta Kapoor, a co-investigator of the study, says women providing 15 or more hours of care per week are especially affected, with half of them experiencing moderate or worse symptoms. She says more menopause conversations are crucial to help women understand and navigate this life transition.

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Most caregivers are women, and a majority of them are in their late 40s and early 50s — the same time frame during which menopause happens for most women.

How do they intersect? That's what Dr. Kapoor and her colleagues wanted to find out.

"It can take a toll on their physical health. It can take a toll on their mental health. And the same can be said about menopause symptoms also, which can significantly impact the quality of life in some women," she says.

Symptoms

Menopause symptoms are divided into three domains.

"You have somatic symptoms, like hot flashes, night sweats, joint pains, fatigue and heart palpitations, etc. Then, the psychological domain has mood problems, anxiety. And the urogenital has vaginal dryness and urinary symptoms," says Dr. Kapoor.

Two findings from the study particularly stood out.

"Menopause symptoms across all domains, and not just the psychological domain, were affected, which was a surprise, No. 1. No. 2, when we tried to adjust for stress and the overall mental health of the women, this association between caregiving and menopause symptom burden persisted," says Dr. Kapoor.

The research, she says, emphasizes the need for better support for caregivers going through menopause and for better education of caregivers and their healthcare professionals regarding treatment options for menopause symptoms.

Review the study for a complete list of authors, disclosures and funding.

Related posts:

• 8 common health conditions midlife women face
• Managing menopause symptoms
• Mayo Clinic Minute: Perimenopause and menopause
• Mayo Clinic study puts price tag on cost of menopause symptoms for women in the workplace

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February is Heart Month in many countries

LONDON — You may have heard that people who feel faint should sit with their heads between their knees, but is that true? And how can you tell whether you or someone else who has fainted should go to the emergency department or perhaps even see a cardiologist? Elijah Behr, M.D., a cardiologist at Mayo Clinic Healthcare in London, explains five things it is important to know about fainting.

Fainting or blacking out, also known as syncope, is a temporary loss of consciousness due to insufficient blood flow to the brain.  

There are different types of syncope

Vasovagal syncope is the medical term for the most benign kind of fainting, simple fainting without a serious underlying cause, Dr. Behr explains. This type of fainting is common.

"In some people, if they have a drop in blood pressure from emotional distress, pain, illness or dehydration, for example, or just generally have a low blood pressure, any provocation causes a reflex in the heart," Dr. Behr says. "Rather than the heart speeding up and pumping more forcefully to maintain the blood pressure, it starts to slow down. The blood pressure drops, the heart rate slows further, and the heart can pause for many seconds; sometimes close to a minute for some people who have more severe fainting episodes."

Usually with this type of fainting, the person falls to the floor, blood pressure returns to the brain and the person starts to recover. However, if someone faints in a vulnerable location or vulnerable position, it can be dangerous to that person and others, Dr. Behr notes.

The syncope that most concerns healthcare professionals is cardiac syncope, blacking out due to an underlying heart disease such as a heart rhythm abnormality, or arrhythmia, he explains.

"This is usually a more abrupt loss and return of consciousness than in simple fainting. If you're older, you're more likely to have underlying heart disease that you may or may not be aware of. That's one of the reasons to be more concerned about loss of consciousness in older individuals," Dr. Behr says. "Young people can also have heart diseases that can cause cardiac syncope that may be a warning sign of something more serious to come, so it is important to investigate it."

Others for whom a blackout can be a warning sign of a serious heart problem include people with a family history of inherited heart problems, unexplained deaths or premature sudden deaths; people whose fainting is related to exercise; and people whose fainting is associated with heart palpitations or the heart feeling like it's racing away, he adds.

Before a simple faint, you might experience one or more signs that you should sit or lie down

"There will be a sensation of lightheadedness. There may be a sensation of nausea or buzzing or ringing in the ears," Dr. Behr says. "Some people describe tunnel vision — their vision closing in on them before they actually pass out — and some may actually lose vision but still be aware, not lose consciousness completely, and then recover. Other typical signs include feeling sweaty and clammy."

Some people get about a half-hour of warnings before fainting; some people may get 30 seconds, he adds.

What to do if you faint or someone else does:

• Check that the person is breathing and has a pulse. If not, call for emergency help, and if you know how to provide cardiopulmonary resuscitation, initiate it.
• If the person is still breathing and has a pulse, ensure they are lying flat, and their airway is open using the recovery position and call for help.
• If you feel like a faint may be coming on, position your head lower than your heart: for example, between the knees.
• Rest after coming out of the faint.
• Drink water after the faint, adding electrolytes if you have them.

"If your blood pressure is getting low and you're getting those symptoms, it means the blood doesn't get into your brain, and if your heart is trying to push the blood to your brain against gravity, then it's struggling. You really need to get your head level or below your heart so the blood pressure gets back to the brain, and that will avert all the symptoms and the vicious cycle that ensues," Dr. Behr advises. "Get your head between your knees or lie down and put your head down and your feet up in the air, depending on where you are and what is feasible to do."

Getting up and walking around straight away is probably the worst thing to do, he warns.

"Your blood pressure will drop further, and you’ll feel worse, and collapse and fall and injure yourself," Dr. Behr says. "The best thing is to stay where you are and get flat, and when you're feeling better, drink some water, maybe with some electrolytes if you're dehydrated. For general preventive measures, we advise most people who have fainted to drink more water and to sometimes add a bit of salt to their food, because generally they're running a low blood pressure."

Sometimes, getting hydrated and adding salt to the diet may not be enough. Occasionally people need to take medications to improve blood pressure control and increase blood pressure to prevent fainting episodes, Dr. Behr says.

When to seek medical help

"If somebody has had simple fainting with the clear precipitants that I described, it is best to have a chat with your GP (your primary care physician) to talk about it. Particularly if it's a first onset of symptoms, it's best not to ignore it," Dr. Behr says. "Often people go to the emergency department after a first faint, which I think is very fair to do and I would encourage."

If someone has had simple faints before, the circumstances that bring them on are typical for them and they have been evaluated by their primary care physician or a cardiologist before, they may not need to go to the emergency department every time, he adds.

The more concerning situations are older people having faints where other conditions may also be having an effect, people who are having recurrent faints despite keeping well hydrated, if there has been an injury due to a faint, and if the blackout comes on abruptly and with other signs that there may be an underlying cardiac condition.

"We need to make sure that they are treated and that something else isn't being missed," Dr. Behr says. "Also, sometimes faints can look like seizures. They can cause fitting activity, and differentiating a seizure and epilepsy from fainting requires involvement of a cardiologist and neurologist."

If you faint at the sight of blood, you may be able to condition yourself not to

"It's very common, but it can be surmounted by various means," Dr. Behr says.

For example, cognitive behavioural therapy (CBT) may help, he suggests. In CBT, you work with a mental health counselor such as a psychotherapist or therapist to become aware of inaccurate or negative thinking, so you can view challenging situations more clearly and respond to them more effectively.

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About Mayo Clinic Healthcare
Mayo Clinic Healthcare, located in London, is a wholly owned subsidiary of Mayo Clinic, a not-for-profit academic medical center. Mayo Clinic is top ranked by U.S. News & World Report in more specialties than any other hospital for a reason: quality of care. Mayo Clinic Healthcare is the U.K.'s front door to that unparalleled experience. Visit Mayo Clinic Healthcare for more information.

Media contact:

• Sharon Theimer, Mayo Clinic Communications, newsbureau@mayo.edu

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