Kidney stones are small, hard lumps that form within the kidneys of people when the salts and minerals in their urine become hard. Although lifestyle, diet, and dehydration are typically significant factors in the development of stones, there’s often an unintentional culprit by way of genetics. Kidney stones are more likely to be inherited, meaning that when your parents or siblings are affected, you could be more at risk.
Here in this blog, let’s simplify the genetic reasons behind kidney stones and see how learning about your genes can help you avoid or control this debilitating condition.
What Are Hereditary Kidney Stones?
If it is referred to as a problem as a hereditary problem, it implies that it can be passed down through parents and children through genes. When it comes to kidney stones, the inherited condition can affect the way that chemicals such as oxalate, calcium, cystine and uric acid are processed within the body. Once these substances are inside the kidneys, they can create a clump and later make stones.
If you’ve suffered from repeated kidney stones means they return frequently or if you’ve had them since the age of a child, it is possible that your doctor suspects an underlying genetic issue and suggests particular tests.
Common Hereditary Causes of Kidney Stones
Let’s take a look at the top five most frequently inheritable conditions that lead to kidney stones.
1. Cystinuria
It is a condition that is genetic, which causes your kidneys to release excess amounts of the amino acid, also known as cystine, in your urine. Cystine cannot dissolve in water easily and tends to form stones and crystals.
Cystinuria sufferers typically suffer from large, persistent stones that can block their urinary tract. The condition is usually discovered at a young age and has an inheritance pattern.
TIP: Staying hydrated and limiting the intake of salt can aid in controlling cystinuria.
2. PRIMARY AND SECONDARY HYPEROXALURIA
Primary Hyperoxaluria can be described as a genetic liver disease that causes excessive oxalate to be created in the human body. It is a naturally occurring substance found in many food items. When oxalate joins with calcium in urine, it causes kidney stones that contain calcium oxalate. These are the most frequent kinds of kidney stones.
Secondary Hyperoxaluria isn’t caused by an individual gene mutation, but happens as a result of other illnesses like colon diseases, surgery for bowel, or a high intake of vitamin C that causes levels of oxalates to increase.
Both could lead to repeated stone formation as well as renal injuries or even a chronic kidney condition if untreated in its early stages.
Prevention tip: reducing the amount of oxalate in food items and drinking enough fluids can have a major impact.
3. Renal Tubular Acidosis (RTA Type 1)
It is an inheritable condition that affects kidney function and the ability to keep the body’s acid and base balance in balance. When you suffer from RTA Type 1, the kidneys don’t eliminate acid as they should, and consequently, the urine is alkaline. This causes the formation of calcium phosphate stones.
Children born with this disorder may have stunted growth as well as bone weakness. If treated properly and with a proper diet, stone formation can be prevented.
4. Dent’s Disease
It is an X-linked disorder and is a common occurrence in males. The kidneys are unable to excrete excessive amounts of calcium in urine (hypercalciuria), which could cause calcium kidney stones, kidney damage, and kidney failure.
It’s a rare condition, and early detection via genetic tests can to keep symptoms under control and prevent complications.
5. Medullary Sponge Kidney
While not always strictly hereditary, Medullary Sponge Kidney (MSK), in some instances, may run within families. It results in cystic dilatations within the collecting ducts of the kidney, which can result in urine pooling and the production of kidney stones many times.
Most individuals with MSK are not even aware that they have it unless they start to produce stones or urinary infections.
6. Genetic Disorders Linked with Uric Acid Stones
Some inherited conditions affect how the body breaks down purine substances found in certain foods. For example, Gout and Lesch-Nyhan Syndrome can lead to high uric acid levels in the blood and urine, causing uric acid stones.
These stones are more likely to form in acidic urine and can be prevented by drinking plenty of water and avoiding high-purine foods like red meat, organ meat, and seafood.
GENETIC KIDNEY STONE PANEL
If you or your family members have suffered from frequent bouts with kidney stones in the past, then your doctor may recommend a Genetic Kidney Stone Panel. This test is designed to identify mutations in specific genes that cause inherited kidney stone disorders.
Benefits of a Genetic Kidney Stone Panel
- Early Diagnosis: allows for the identification of genetic reasons before complications with renal damage recur.
- Individualized Treatment: This allows doctors to create diet and treatment programs based on your genetic makeup.
- The Family Screening Program: If a person is positive, all the other family members can also able to be tested.
- A sense of peace: Knowing the root of the problem is a good way to manage your health better and avoid speculation.
How to Manage Hereditary Kidney Stones
While you can’t change your genes, you can definitely control how they affect your health. Here are some
Effective ways to manage hereditary kidney stones:
- Keep hydrated: Include between 2 and 3 liters of water each day within your routine
- Reduce salt intake and animal protein: Consuming a lot of salt and animal protein can raise the levels of calcium and uric acid in the urine.
- Get a balanced diet: Include more healthy foods in your diet. They reduce acidity in urine and decrease the risk of developing stones.
- Regular Check-ups: Keep in touch with your urologist frequently to have a urine test and imaging tests.
- Genetic Counseling: If you’ve got a long family background, counseling on genetics can help determine the risks for future generations.
When to See a Doctor
You must see a doctor if you experience:
• Severe side or back pain
• Blood in your urine
• Frequent urinary tract infections
• A family history of kidney stones
A health expert can prescribe urine tests, blood tests or even genetic panels to determine the cause.
Conclusion: Understanding Your Genes, Protecting Your Kidneys
Kidney stones may appear to be a normal health issue. But in some cases, the cause of this is more complex, and it is genetics. Knowing the important causes of kidney stones caused by genetics can help identify more effective ways to treat and prevent strategies, and lifestyle changes that meet your specific needs.
If kidney stones are an aspect of your bloodline or yours, you should not ignore the warning signs. Take a look at a genetic test or kidney stone test with Dr. Deepanshu Gupta, the best urologist in Gurgaon, with over 12+ years of experience, to find out what’s happening behind the scenes. Being aware is the most effective way to avoid the problem, and if you’re suffering from a problem where your kidneys are failing, each little bit of information you can get is crucial.
The treatment of the kidneys goes beyond taking in more fluids. It’s about being conscious of your body’s unique structure and giving it what it is due. Therefore, be aware of your body’s needs, stay aware, and let science guide you in staying in front of those painful stones.