Chronic kidney disease (CKD) is becoming an increasingly important global health concern. Diabetes, high blood pressure, ageing, obesity, dietary patterns, and other factors can contribute to kidney damage. But there is another side of kidney health that is easy to overlook: genetics.
Not every kidney disorder begins with lifestyle or dietary choices. Some kidney diseases are inherited and can remain unnoticed for years before symptoms or declining kidney function become apparent.
One important example is autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder in which numerous cysts develop in the kidneys. Changes in the PKD1 or PKD2 genes account for most typical cases of ADPKD, with PKD1 being the more frequently affected gene.
This distinction matters when discussing the growing CKD burden: diet and lifestyle can influence kidney health, but they do not explain every cause of CKD. Some people may have an underlying inherited kidney disorder that requires a different diagnostic approach.
What Is Driving the Growing Burden of CKD?
CKD refers to abnormalities of kidney structure or function that persist over time. It can progress gradually, and many people may not notice symptoms during the early stages.
Common contributors to CKD include:
- Diabetes
- High blood pressure
- Cardiovascular disease
- Obesity and metabolic disorders
- Certain medications or kidney-toxic exposures
- Recurrent kidney problems
- Some autoimmune and inflammatory diseases
- Inherited kidney disorders
Diet can also influence kidney health. High sodium intake, poor overall dietary quality, and diets associated with metabolic disease may contribute indirectly to kidney damage by worsening conditions such as hypertension and diabetes.
However, CKD is not one disease with one cause. A person with apparently healthy lifestyle habits can still develop kidney disease because of an inherited genetic condition.
Could Kidney Disease Be Hidden in Your Genes?
Yes. Some kidney disorders are caused by pathogenic genetic variants that can be passed through families.
ADPKD is one of the best-known inherited kidney diseases. It causes fluid-filled cysts to develop and enlarge in the kidneys and can eventually impair kidney function. It may also be associated with high blood pressure, liver cysts and certain blood-vessel complications.
ADPKD is particularly important because it can remain clinically silent for years. NIDDK notes that it is commonly diagnosed between ages 30 and 50, when signs and symptoms begin to appear.
That means a person may not realize that a kidney condition is running in the family until a relative is diagnosed or imaging reveals kidney cysts.
Could Kidney Disease Be Hidden in Your Genes?
Yes. Some kidney disorders are caused by pathogenic genetic variants that can be passed through families.
ADPKD is one of the best-known inherited kidney diseases. It causes fluid-filled cysts to develop and enlarge in the kidneys and can eventually impair kidney function. It may also be associated with high blood pressure, liver cysts and certain blood-vessel complications.
ADPKD is particularly important because it can remain clinically silent for years. NIDDK notes that it is commonly diagnosed between ages 30 and 50, when signs and symptoms begin to appear.
That means a person may not realize that a kidney condition is running in the family until a relative is diagnosed or imaging reveals kidney cysts.
What Is PKD1 and Why Does It Matter?
The PKD1 gene provides instructions for making polycystin-1, a protein involved in normal kidney-cell function.
Pathogenic variants in PKD1 can cause ADPKD. According to the 2025 KDIGO guideline, PKD1 is the major gene associated with ADPKD and is associated with a broad range of disease severity.
In general, PKD1-associated ADPKD can be associated with earlier and more substantial kidney involvement than some other genetic forms of the disease. However, disease severity can vary considerably between individuals, so a genetic result should not be interpreted as a precise prediction of an individual’s future kidney function.
How Is Genetic Kidney Disease Different From Lifestyle-Related CKD?
This is an important distinction.
| Lifestyle-associated kidney risk | Inherited kidney disease |
|---|---|
| Diabetes can damage kidney blood vessels and filtering structures | A pathogenic genetic variant can directly contribute to kidney disease |
| High blood pressure can progressively damage the kidneys | ADPKD can cause progressive cyst formation and kidney enlargement |
| Dietary patterns can influence metabolic and cardiovascular risk | Genetic risk can be inherited within families |
| Risk can sometimes be reduced through lifestyle and medical management | Genetic risk cannot be changed through diet or exercise |
| Routine kidney-function monitoring may be important | Imaging, family history and genetic evaluation may be relevant |
These categories can also overlap. Someone with an inherited kidney disorder can still have diabetes, hypertension, or other acquired risk factors that influence disease progression.
When Should Genetic Testing for Kidney Disease Be Considered?
Genetic testing is not necessary for every person with CKD.
It may be considered when a healthcare professional suspects an inherited kidney disorder—for example, when there is:
A Strong Family History
If several relatives have been diagnosed with polycystic kidney disease, unexplained kidney failure, or kidney cysts, an inherited condition may need to be considered.
Because ADPKD is autosomal dominant, an affected parent can pass the disease-causing variant to a child.
Kidney Cysts on Imaging
Ultrasound, CT or MRI may reveal multiple kidney cysts. Imaging can play an important role in evaluating suspected ADPKD, but genetic testing may provide additional information in selected situations.
An Unclear or Atypical Diagnosis
The 2025 KDIGO guideline notes that genetic testing can help clarify diagnosis in situations such as atypical imaging findings, variable disease severity within a family, or cases without a known family history.
A Need for Family Risk Assessment
When a pathogenic variant responsible for ADPKD has been identified in a family, genetic evaluation may help determine which relatives have inherited the familial variant.
Genetic counseling can be particularly valuable before and after testing so that patients understand what the result may—and may not—mean for themselves and their relatives.
What Can a PKD1 Genetic Test Tell You?
A PKD1 genetic test looks for disease-associated variants in the PKD1 gene.
Depending on the clinical situation and laboratory methodology, the result may help:
- Support or clarify a suspected diagnosis of ADPKD
- Identify a pathogenic PKD1 variant in someone with a relevant family history
- Assist evaluation when imaging findings are inconclusive or atypical
- Help with familial risk assessment
- Provide information that can be incorporated into clinical management and genetic counseling
Importantly, a genetic test should be interpreted alongside clinical findings, family history and imaging rather than in isolation.
Frequently Asked Questions
1. Can kidney disease be caused by genetic factors?
Yes. Some kidney diseases are inherited and can run in families. Autosomal dominant polycystic kidney disease (ADPKD) is a major inherited kidney disorder, most commonly associated with pathogenic variants in the PKD1 or PKD2 genes.
2. What is the PKD1 gene?
The PKD1 gene is one of the major genes associated with autosomal dominant polycystic kidney disease. Changes in this gene can cause multiple cysts to develop in the kidneys and may contribute to progressive loss of kidney function.
3. Who should consider PKD1 genetic testing?
PKD1 testing may be considered when ADPKD is suspected, particularly in people with a strong family history, kidney cysts with unclear diagnosis, atypical imaging findings, or other circumstances where genetic clarification could be clinically useful.
4. Can a PKD1 genetic test detect polycystic kidney disease?
A genetic test can identify disease-associated variants in PKD1, which can help support or clarify a diagnosis of ADPKD in appropriate clinical situations. Genetic testing is generally interpreted together with family history, imaging and other clinical findings.
5. Is polycystic kidney disease the same as chronic kidney disease?
No. Polycystic kidney disease (PKD) is a genetic disorder, while chronic kidney disease (CKD) is a broader term describing persistent abnormalities in kidney structure or function. ADPKD can progressively cause CKD and, in some people, kidney failure.
6. Can diet cause PKD1-related polycystic kidney disease?
No. PKD1-related ADPKD is caused by a disease-associated genetic variant, not by eating a particular diet. However, diet and lifestyle can still be important for managing overall kidney and cardiovascular health in people with kidney disease.
7. If my parent has polycystic kidney disease, should I get genetic testing?
A family history of ADPKD can be an important reason to discuss genetic or imaging evaluation with a healthcare professional. In families with a known pathogenic variant, testing for the specific familial variant can help determine whether relatives have inherited it.
8. Can genetic testing predict how severe PKD will become?
Not precisely. A genetic result can provide important diagnostic information, but it cannot reliably predict the exact age of symptom onset or individual disease progression. Disease severity can vary between people, even within the same family.
9. Is PKD1 testing useful if there is no family history of kidney disease?
It can be useful in selected cases. The absence of a known family history does not completely exclude ADPKD, and genetic testing may help when imaging findings are atypical or the diagnosis is uncertain.
10. What is the PKD1 Gene NGS Genetic Test?
The PKD1 Gene NGS Genetic Test uses next-generation sequencing to investigate variants in the PKD1 gene. It may be used as part of the evaluation of suspected PKD1-associated ADPKD and should be interpreted in the context of clinical findings and genetic counseling where appropriate.
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