About Genetics and Kidney Disease
Some diseases are said to run in the family, when more than one person in a family has the same kind of illness. And it’s true, some diseases and conditions that are caused by gene variants (changes) and can be inherited (passed down from parent to child). Certain variants have also been linked to an increased risk of kidney disease.
However, there are other diseases and conditions that appear to run in families, but are not always caused by the variants in a person’s genes. Instead, environmental factors, or a combination of genetic and environmental factors can be the reason why a disease develops. This can also apply to kidney disease.
Genetic Variants and Kidney Disease Risk
Some risk variants in certain genes (APOL1, MYH9, HNF1B, SLC7A9 and others) have been linked with an increased risk of kidney disease. For example, certain APOL1 variants have been linked with different types of kidney disease, including a higher risk of high blood pressure-related chronic kidney disease (CKD) or kidney failure, focal segmental glomerulosclerosis (FSGS), and HIV-associated nephropathy (HIVAN). Research is ongoing as to the exact relationship between risk variants, other factors and kidney disease.
Inherited Diseases
There are many inherited diseases that can lead to kidney disease or kidney failure, including polycystic kidney disease (PKD), Fabry disease, Alport syndrome, primary distal renal tubular acidosis (dRTA), primary hyperoxaluria type 1 (PH1), and many others.
Inherited disease can be difficult to predict in some cases because many factors influence a person's chances of developing a genetic condition. One important factor is how the condition is inherited. Certain diseases have inheritance patterns that can increase the risk of kidney disease. For example, because of the way Fabry disease is inherited, men with a Fabry risk variant tend to develop more severe symptoms and are at higher risk for kidney disease. Women with a Fabry risk variant may have no symptoms or mild symptoms. However, women with Fabry risk variants can still develop significant symptoms of Fabry disease and heart disease is more common.
The following is a partial list of inherited kidney diseases, which can affect other parts of the body.
Other risk factors and kidney disease
We know that genetic variants are not solely responsible for the development of kidney disease. There are other factors that contribute to your kidney disease risk.
Environmental and social factors play a role in influencing and changing the way genes work. Some of the different types of factors include having more than one disease (for example, high blood pressure and diabetes) or the places where you live, work, and play.
While all these factors present challenges and obstacles to good health, there are also lifestyle factors which can contribute to an increased risk of developing kidney disease. Some of these factors include smoking, not being physically active or exercising, eating unhealthy foods, ignoring your mental health, and other personal situations in your everyday life.
While more research is needed, it’s important that we understand the role genetics and other factors play in the development of kidney disease. While a genetic variant may put someone at increased risk for kidney disease, there are other factors that are likely to be the trigger for disease development to begin.
Complications
Kidney disease can lead to other health problems or complications, such as heart disease or stroke, high blood pressure, kidney failure, and others. Different types of kidney disease can have different complications. It is important to get regular check-ups to monitor these complications.
Diagnosis
Genetic Testing
Genetic testing may be used to find out if a person has a gene variant linked to certain diseases, such as kidney disease. Gene testing can be ordered by a physician or genetic counselor. A genetic counselor is a healthcare professional with special training in genetics and genetic diseases. They can help answer questions about the test and its results. The decision to have a genetic test is made in consultation with a healthcare professional.
General Tests for Kidney Disease
Urine and blood tests can check for signs of kidney disease. Estimated glomerular filtration rate (eGFR) is a blood test that checks how well the kidneys are filtering your blood.
A urinary albumin-to-creatinine ratio (uACR) is a urine test that checks for high protein (albumin) in your urine, which is a sign of kidney damage.
Both tests are needed to have a clear picture of your kidney health. Having an eGFR under 60 and/or a uACR over 30 for three months or more is a sign you may have kidney disease.
A urine protein-to-creatinine ratio (uPCR) may also be used for certain kidney diseases. This test is similar to the uACR test, which measures albumin. Instead of measuring only the amount of albumin in your urine, it measures all the different proteins that may be present. A uPCR level of 150 mg/g or more can be a sign of proteinuria.
Treatment
Treatment will depend on the type of kidney disease you have. Your healthcare team will work with you to create a treatment plan to help prevent kidney disease or keep it from getting worse. Certain nutrition and lifestyle recommendations and medicines may be involved. Be sure to keep up with medical visits.
