Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder defined by the progressive growth of numerous fluid-filled cysts in both kidneys. This inherited condition is one of the most common genetic diseases. The cysts can enlarge the kidneys and interfere with their ability to function over time. As a multisystem disorder, cysts can also develop in other organs, including the liver and pancreas.
Global and National Prevalence Rates
Globally, ADPKD is a widespread condition, with diagnosed cases affecting between 1 in 400 and 1 in 1,000 people, making it the most common inherited kidney disorder worldwide. While some estimates suggest the condition affects up to 12 million people, specific population-based studies often report lower rates. For example, in Europe, prevalence estimates range from 2.4 to 4.6 cases per 10,000 individuals.
In the United States, ADPKD affects an estimated 500,000 people. Studies based on diagnosed cases suggest a prevalence of about 43 cases per 100,000 people, corresponding to approximately 140,000 individuals. The disorder is a cause of kidney failure, accounting for 6% to 10% of all patients in the U.S. on dialysis. It is also the fourth leading cause of kidney failure worldwide.
About half of all affected individuals develop end-stage kidney disease (ESKD) by their 60s or 70s. This progression to ESKD necessitates renal replacement therapy, such as dialysis or a kidney transplant, for survival.
Demographic and Genetic Considerations
As an autosomal dominant disorder, ADPKD is passed down through families via a pathogenic gene variant. An affected parent has a 50% chance of passing the gene to each child, regardless of sex. This pattern means the condition appears in every generation and affects males and females at nearly equal rates, though males may experience more rapid disease progression. The disease is found in all racial and ethnic groups worldwide.
The majority of ADPKD cases, about 85%, are caused by a mutation in the PKD1 gene, while most of the remaining 15% are linked to the PKD2 gene. The PKD1 mutation is associated with a more severe form of the disease, with kidney failure appearing earlier in life. Individuals with PKD2 mutations have a milder disease, with the onset of end-stage kidney disease occurring about 20 years later. In a small number of cases, around 5-10%, the disease arises from a new “de novo” genetic mutation, meaning there is no family history.
While cysts can be detected in childhood, clinical signs of ADPKD do not become apparent until the third or fourth decade of life. The average age of diagnosis is between 30 and 50 years old. This late onset of symptoms means many individuals are unaware they have the condition for a significant portion of their lives.
Factors Influencing Prevalence Data
The reported prevalence of ADPKD varies between studies due to challenges in data collection and diagnosis. A primary factor is the large population of undiagnosed individuals. Because the disease can be asymptomatic for decades, or symptoms like high blood pressure and back pain are attributed to other causes, many people are never formally diagnosed.
Historically, before the widespread use of advanced medical imaging, many cases were missed or misdiagnosed. Diagnostic tools such as ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) have greatly improved the ability to detect kidney cysts. These methods allow for earlier and more accurate diagnosis, often before severe symptoms. This increased detection has led to a rise in the reported prevalence as more cases are identified.
Genetic testing has provided another layer of diagnostic certainty. While not a universal screening tool due to cost, it can confirm a diagnosis for individuals with an unclear family history or atypical presentation. As diagnostic technologies become more accessible and awareness grows, the gap between estimated and diagnosed cases is expected to narrow. This improvement will continue to refine our understanding of ADPKD’s prevalence.