Category: Family Health

Drink lots of water

Staying well-hydrated is the best way to reduce your risk of future stones. Drink 8 12-ounce glasses of water daily. Have 2 glasses with each meal and 2 glasses between meals. unless your health care provider has restricted your fluids. Keep track of your intake. Try keeping a pitcher of water nearby during the day and at night. Ask your provider about how much fluid you should have if you have congestive heart failure, kidney disease, or kidney failure.

Take medicines if needed

Medicines, including vitamins and minerals, may be prescribed for certain types of stones. You may want to write your doses and medicine times on a calendar. Some medicines decrease stone-forming chemicals in your blood. Others help prevent those chemicals from crystallizing in urine. Still others help keep a normal acid balance in your urine.

Follow your prescribed diet

Your health care provider will tell you which foods contain the compounds you should not have. Your provider may also suggest talking with a dietitian. They can help you plan meals you’ll enjoy that won’t put you at risk for future stones. Bring your spouse, partner, or close friend with you when you meet with the dietitian so you can have support for your diet changes.

You may be told to limit certain foods, depending on which type of stones you’ve had. Limit the amount of salt in your food to about 2 grams a day. This will help prevent most types of kidney stones. Make sure you get enough calcium in your diet, and stay away from extra calcium supplements. The recommended calcium intake to help prevent calcium stones is 1,000 to 1,200 mg per day. (You can eat 3 servings of dairy products with meals to meet the recommendation.)

For calcium oxalate stones:  Limit animal protein, such as meat, eggs, and fish. Limit grapefruit juice and alcohol. Limit high-oxalate foods (such as cola, tea, chocolate, spinach, rhubarb, wheat bran, and peanuts). Limit sodium intake, because it causes increased leakage of calcium in your urine.

For uric acid stones: Limit high-purine foods, such as red meat, shellfish, anchovies, and organ meats. These foods increase uric acid production. Stay away from alcohol and drinks with high fructose corn syrup. They can increase your risk of forming another kidney stone.

For cystine stones: Limit high-methionine foods. (Fish is the most common, but they include eggs and meats too.) These foods increase production of cystine.

As kidney function slows down and toxins build up, you may feel sick, experience muscle cramps, or have trouble sleeping. As a result, everyday tasks may become more physically or emotionally exhausting. While this can be overwhelming, we’re here to help with three simple tips you can use today. 

1. Make a plan of action

Break out a planner, a notebook, or a whiteboard, and get ready to create a routine that works for you.

1. Write down everything you need to do in a month.
2. Categorize tasks based on difficulty.
3. Plan around patterns in your health and mood. When do you feel your best?
4. Schedule the most essential tasks for the upcoming month, like picking up medication.
5. Choose one or two smaller tasks each day based on importance, ease of completion, and how well you feel.

Try to be flexible, experiment with your schedule, and take frequent breaks between tasks. While it may be frustrating to stop in the middle, show yourself the same compassion you’d have for a loved one in a similar position. 

Take Charles, a kidney patient on dialysis: “There were so many toxins built up in my body and brain that it affected my thinking. I was not able to think or communicate properly. I was not able to do what I normally do.” 

Dialysis helped Charles tremendously, but like many others with chronic kidney disease, he still experienced good and bad days. On those tough days, remember to rest and be proud that you’re prioritizing yourself. 

2. Choose products and services that work for you

When shopping, look for products that can help you achieve your goals, like Audra, a kidney transplant recipient. She loves cooking but struggled to do it as the kidney disease progressed. Instead of giving up on the hobby, Audra went on the hunt for tools to help her do it. 

“I’ve learned a lot of tricks and tips to help make cooking easier,” said Audra. “I found these gadgets that do the work for me, like my tofu press. It’s a game changer because I can actually squeeze all the juice out and fry it in my air fryer. I also found a great vegetable cutter, a sharp knife, and a food scoop so I don’t have to pick up small pieces of chopped food.” 

Tools and services to help make everyday tasks easier:

• Grocery delivery app
• Vegetable chopper and spiralizer
• Grabber
• Professional cleaning service
• Countertop height chair and low rolling stool
• Lightweight vacuum or robot vacuum
• Lawn care maintenance service
• Wheeled cart

3. Ask for help

You may run into things you can’t do, and that’s okay. Many friends and family want to help, so let them know how they can. Their assistance may give you the space to focus on your health, as it did for Jessica, a dialysis patient.

I couldn’t do simple things like cook or open jars, and I couldn’t even maneuver my vehicle or drive,” Jessica said. “My lupus took over. It became very aggressive and attacked my kidneys because we didn’t treat it quickly enough. Luckily, my family and my husband were always right there helping me so I could get better.”

Five small ways your loved ones can help that have a big impact:

1. Bringing over a kidney-friendly dish
2. Helping you clean harder-to-reach areas
3. Picking up medications
4. Driving you to an appointment
5. Holding space for your feelings

If you struggle to open up with the people closest to you, join NKF Peers. Our trained mentors know what it’s like to live with kidney disease and can provide you with the support you need. 

Learn more about NKF Peers.

If you’ve ever fainted at the sight of blood or from standing up too fast, you’ve experienced what’s known as vasovagal syncope, the most common cause of fainting. Up to a third of people have experienced an episode of vasovagal syncope at some point in their lives.

Occasional episodes of vasovagal syncope are rarely a cause for concern. But if they happen often, it’s a good idea to see a doctor to rule out more serious underlying causes.

What is vasovagal syncope?

Vasovagal syncope occurs when the vagus nerve, which carries signals from the brain to the rest of the body and controls functions including heart rate and blood pressure, becomes overstimulated in response to triggers such as stress, dehydration, or donating blood. The heart rate slows and blood vessels widen, causing a drop in blood pressure and reduced blood flow to the brain. This can lead to a loss of consciousness.

Lying or sitting down (and even falling) quickly restores blood flow to the brain, allowing blood pressure to return to normal. Most people regain consciousness within a few seconds after passing out.

While vasovagal syncope is not life-threatening in itself, it can lead to serious injuries as a result of falling.

Common triggers of vasovagal syncope

Common triggers of vasovagal syncope include:

• prolonged standing
• standing up too quickly from a sitting position
• having blood drawn or donating blood
• the sight of blood
• dehydration
• intense pain (such as from a back spasm)
• sudden emotional stress or physical trauma.

Less common triggers of vasovagal syncope include coughing, straining to have a bowel movement, or urinating while standing up (in men).

Symptoms of vasovagal syncope

Fainting due to vasovagal syncope is often preceded by feeling dizzy, lightheaded, or nauseous. Your skin may feel cold and clammy and you may black out or have blurry vision. If you’re standing up, you will lose control of the muscles in your lower body and will slump or fall down.

How to manage syncope if you’re prone to fainting

If you have fainted before and recognize the signs, here are some things you can do to restore blood flow to the brain before you actually pass out.

• Lie down and elevate your legs.
• Cross your legs and tense the muscles in the legs, abdomen, and buttocks.
• Make a fist, or grip a rubber ball or something else that you can easily wrap your hand around.
• Sit down and put your head between your legs.

If you know your triggers, take preventive measures to avoid fainting or to avoid falling if you do faint. For example, if having your blood drawn is a trigger, ask to lie down during the procedure. If you’ve fainted before due to dehydration, make sure you drink enough water or other liquids throughout the day.

When to see a doctor

See your doctor if you have recurrent fainting episodes or if you experience confusion or heart palpitations during an episode. Your provider may want to rule out other causes of fainting. If you also experience chest pain or shortness of breath, call 911 right away.

Not all fainting is related to the vasovagal nerve. Other common causes include heart problems, low blood sugar, panic disorder, seizure disorders, neurological disorders, substance use disorders, and some prescription medications.

Treatment options for recurrent syncope

In general, the best way to avoid fainting due to vasovagal syncope is to avoid your triggers, recognize warning signs, and adopt prevention strategies if you do feel warning signs coming on.

If the underlying cause of your fainting episodes is not related to overstimulation of the vasovagal nerve, your doctor will likely recommend further testing. In that case, treatment will address the underlying cause.

Some genetic conditions are caused by variants (also known as mutations) in a single gene. These conditions are usually inherited in one of several patterns, depending on the gene involved:

Patterns of inheritance

Inheritance pattern	Description	Examples
Autosomal dominant	One altered copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder. In some cases, an affected person inherits the condition from an affected parent. In others, the condition may result from a new variant in the gene and occur in people with no history of the disorder in their family.	Huntington’s disease, Marfan syndrome
Autosomal recessive	In autosomal recessive inheritance, variants occur in both copies of the gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Autosomal recessive disorders are typically not seen in every generation of an affected family.	cystic fibrosis, sickle cell disease
X-linked dominant	X-linked dominant disorders are caused by variants in genes on the X chromosome. In males (who have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. Females may experience less severe symptoms of the disorder than males. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission).	fragile X syndrome
X-linked recessive	X-linked recessive disorders are also caused by variants in genes on the X chromosome. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission).	hemophilia
X-linked	Because the inheritance pattern of many X-linked disorders is not clearly dominant or recessive, some experts suggest that conditions be considered X-linked rather than X-linked dominant or X-linked recessive. X-linked disorders are caused by variants in genes on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), an alteration in the only copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one altered copy of the gene usually leads to less severe health problems than those in affected males, or it may cause no signs or symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission).	glucose-6-phosphate-dehydrogenase-deficiency, X-linked thrombocytopenia
Y-linked	A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y chromosome, one of the two sex chromosomes in each of a male’s cells. Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be passed from father to son.	Y chromosome infertility, some cases of Swyer syndrome
Codominant	In codominant inheritance, two different versions (alleles) of a gene are expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine the characteristics of the genetic condition.	ABO blood group, alpha-1 antitrypsin deficiency
Mitochondrial	Mitochondrial inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. Mitochondria, which are structures in each cell that convert molecules into energy, each contain a small amount of DNA. Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial variants to their children. Conditions resulting from variants in mitochondrial DNA can appear in every generation of a family and can affect both males and females, but fathers do not pass these disorders to their daughters or sons.	Leber hereditary optic neuropathy (LHON)

Many health conditions are caused by the combined effects of multiple genes (described as polygenic) or by interactions between genes and the environment. Such disorders usually do not follow the patterns of inheritance listed above. Examples of conditions caused by variants in multiple genes or gene/environment interactions include heart disease, type 2 diabetes, schizophrenia, and certain types of cancer. For more information, please see What are complex or multifactorial disorders?

Disorders caused by changes in the number or structure of chromosomes also do not follow the straightforward patterns of inheritance listed above. To read about how chromosomal conditions occur, please see Are chromosomal disorders inherited?

Other genetic factors sometimes influence how a disorder is inherited. For an example, please see What are genomic imprinting and uniparental disomy?

To find a genetics professional in your community, you may wish to ask your doctor for a referral. If you have health insurance, you can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan.

Several organizations have tips for finding a healthcare professional:

• The Genetic and Rare Diseases Information Center, a service of the National Institutes of Health, provides information in particular genetic and rare conditions.

• The Tuberous Sclerosis Alliance provides advice on finding and choosing a clinic. Although this advice is written for adults with tuberous sclerosis, much of it applies to people with any chronic health condition.

Additional resources for locating a genetics professional in your community are available online:

If you have a health condition that has not been diagnosed, you may be interested in the Undiagnosed Diseases Network. They have information about how to apply for this multicenter research study.

Naming genetic conditions

Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee). Doctors who treat families with a new, previously unknown disorder are often the first to propose a name for the condition. Later, healthcare professionals, researchers, people affected by the condition, and other interested individuals may come together to revise the name to improve its usefulness. Naming is important because it allows accurate and effective communication about particular conditions, which will ultimately improve care and help researchers find new approaches to treatment.

Condition names are often derived from one or a combination of sources:                        

• The basic genetic or biochemical defect that causes the condition (for example, alpha-1 antitrypsin deficiency);

• The gene in which the variant (or mutation) that causes the condition occurs (for example, TUBB4A-related leukodystrophy);

• One or more major signs or symptoms of the disorder (for example, hypermanganesemia with dystonia, polycythemia vera, and cryptogenic cirrhosis);

• The parts of the body affected by the condition (for example, brain-lung-thyroid syndrome);

• The name of a physician or researcher, often the first person to describe the disorder (for example, Marfan syndrome, which was named after Dr. Antoine Bernard-Jean Marfan);

• A geographic area (for example, familial Mediterranean fever, which occurs mainly in populations bordering the Mediterranean Sea); or

• The name of a patient or family with the condition (for example, amyotrophic lateral sclerosis is often called Lou Gehrig disease after the famous baseball player who was diagnosed with the condition).        

Conditions named after a specific person are called eponyms. They can be in the possessive form (e.g., Alzheimer’s disease) or in the nonpossessive form (e.g., Down syndrome).

Naming genes

The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol (an abbreviation of the name) for each known human gene. The HGNC is a nonprofit organization funded by the U.S. National Human Genome Research Institute and the UK’s Wellcome Trust. The Committee has named more than 19,000 of the estimated 20,000 to 25,000 protein-coding genes in the human genome.

During the research process, genes often acquire several alternate names and symbols from researchers investigating the same gene. To resolve this confusion, the HGNC assigns a unique name and symbol to each human gene, which allows effective organization of genes in large databanks, aiding the advancement of research. For specific information about how genes are named, refer to the HGNC’s Guidelines for Human Gene Nomenclature.

Genome editing (also called gene editing) is a group of technologies that give scientists the ability to change an organism’s DNA. These technologies allow genetic material to be added, removed, or altered at particular locations in the genome. Several approaches to genome editing have been developed. A well-known one is called CRISPR-Cas9, which is short for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9. The CRISPR-Cas9 system has generated a lot of excitement in the scientific community because it is faster, cheaper, more accurate, and more efficient than other genome editing methods.

CRISPR-Cas9 was adapted from a naturally occurring genome editing system that bacteria use as an immune defense. When infected with viruses, bacteria capture small pieces of the viruses’ DNA and insert them into their own DNA in a particular pattern to create segments known as CRISPR arrays. The CRISPR arrays allow the bacteria to “remember” the viruses (or closely related ones). If the viruses attack again, the bacteria produce RNA segments from the CRISPR arrays that recognize and attach to specific regions of the viruses’ DNA. The bacteria then use Cas9 or a similar enzyme to cut the DNA apart, which disables the virus.

Researchers adapted this immune defense system to edit DNA. They create a small piece of RNA with a short “guide” sequence that attaches (binds) to a specific target sequence in a cell’s DNA, much like the RNA segments bacteria produce from the CRISPR array. This guide RNA also attaches to the Cas9 enzyme. When introduced into cells, the guide RNA recognizes the intended DNA sequence, and the Cas9 enzyme cuts the DNA at the targeted location, mirroring the process in bacteria. Although Cas9 is the enzyme that is used most often, other enzymes (for example Cpf1) can also be used. Once the DNA is cut, researchers use the cell’s own DNA repair machinery to add or delete pieces of genetic material, or to make changes to the DNA by replacing an existing segment with a customized DNA sequence.

Genome editing is of great interest in the prevention and treatment of human diseases. Currently, genome editing is used in cells and animal models in research labs to understand diseases. Scientists are still working to determine whether this approach is safe and effective for use in people. It is being explored in research and clinical trials for a wide variety of diseases, including single-gene disorders such as cystic fibrosis, hemophilia, and sickle cell disease. It also holds promise for the treatment and prevention of more complex diseases, such as cancer, heart disease, mental illness, and human immunodeficiency virus (HIV) infection.

Ethical concerns arise when genome editing, using technologies such as CRISPR-Cas9, is used to alter human genomes. Most of the changes introduced with genome editing are limited to somatic cells, which are cells other than egg and sperm cells (germline cells). These changes are isolated to only certain tissues and are not passed from one generation to the next. However, changes made to genes in egg or sperm cells or to the genes of an embryo could be passed to future generations. Germline cell and embryo genome editing bring up a number of ethical challenges, including whether it would be permissible to use this technology to enhance normal human traits (such as height or intelligence). Based on concerns about ethics and safety, germline cell and embryo genome editing are currently illegal in the United States and many other countries.