From the Guidelines
Polycystic kidney disease (PKD) is primarily associated with the kidneys, but the liver is the second most commonly affected organ, with liver cysts present in up to 90% of patients with autosomal dominant PKD by age 30, as reported in the KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary 1. The liver is affected in the majority of people with ADPKD, with liver cysts increasing in number with age, although most people will not develop clinically symptomatic polycystic liver disease (PLD) 1. Some key points to consider include:
- Liver cysts, even in advanced PLD, do not usually impact the synthetic or secretory capacity of the liver 1.
- Symptoms can ensue due to the mass effect of a large cystic liver exerting pressure on the diaphragm and abdominal wall, compressing other abdominal organs and vascular structures 1.
- Other associated organs include the pancreas, which may develop cysts, and blood vessels, particularly in the brain, where aneurysms can form 1.
- The heart may also be affected, with mitral valve prolapse occurring in some patients, although the prevalence of mitral valve prolapse in ADPKD is similar to that in the general population 1.
- The intestines can develop diverticula, and seminal vesicle cysts may appear in men with PKD 1. These multi-organ manifestations occur because the genetic mutations responsible for PKD affect proteins involved in cellular structure and function throughout the body, not just in the kidneys 1. It is essential to consider the extrarenal manifestations of ADPKD, including intracranial aneurysms, subarachnoid hemorrhage, and other cardiovascular and hepatic complications, to provide comprehensive care for patients with this condition 1.
From the Research
Associated Organs with Polycystic Kidney Disease
The organs associated with Polycystic Kidney Disease (PKD) include:
- Liver: PKD is a systemic disorder, and cysts appear with decreasing frequency in the liver 2. Complex liver cysts are observed in 12% of ADPKD cases, occurring more frequently in livers with extensive cystic involvement 3.
- Pancreas: Pancreatic cysts are more prevalent in patients with ADPKD, particularly those with PKD2 gene mutations 4.
- Brain: Cysts can appear in the brain, and cardiac valvular disorders, abdominal and inguinal hernias, and aneurysms of cerebral and coronary arteries and aorta are also associated with ADPKD 2.
- Spleen: Cysts can appear in the spleen, although less frequently than in the kidneys or liver 2.
- Ovaries and testis: Cysts can also appear in the ovaries and testis, although this is less common 2.
Pathogenesis and Clinical Features
The pathogenesis of PKD involves the formation of multiple renal tubular cysts, leading to end-stage renal failure 5. The disease is characterized by the presence of cysts in various organs, including the liver, pancreas, and kidneys. Clinical features include hypertension, hematuria, renal infection, stones, and renal insufficiency 2.