Causes and Risk Factors of Polycystic Kidney Disease

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Polycystic kidney disease (PKD) is a genetic disorder that causes fluid-filled cysts to form in the kidneys. With time, the cysts overtake parts of the kidney, which decreases the kidney's ability to function and can eventually lead to kidney failure. There are two types of PKD, autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). Autosomal dominant PKD accounts for an estimated 90% of all PKD.

Common Causes

PKD usually is caused by a genetic mutation, primarily as an inherited genetic mutation. In other words, at least one parent passes the genetic mutation to the child.  Many individuals affected with ADPKD often do not know they have an inherited disease because diagnosis is usually made between 30 and 50 years of age. ADPKD affects both men and women fairly equally. 

ARPKD is also an inherited disease but is primarily diagnosed late in pregnancy or at the time of birth. Up to 50% of infants die shortly after birth. Nearly 80% of children who survive the first few weeks of life are diagnosed with cardiovascular complications, such as arterial hypertension, which requires multiple medications to manage and close medical monitoring for the remainder of life.  

There is a small percentage of PKD cases that are acquired. Individuals diagnosed with acquired PKD have usually undergone years of dialysis treatments due to other causes of kidney failure.

Genetics

The most common genetic mutations responsible for ADPKD are the PKD1 and PKD2 genes. Since ADPKD is autosomal dominant, an individual would need to inherit either the PKD1 or PKD2 gene mutation from only one parent. With autosomal dominant genetic mutations, if one child inherits the PKD1 or PKD2 genetic mutation, all children will inherit the genetic mutation from that parent.

ARPKD is linked to genetic mutations of the PKHD1 gene. Since ARPKD is autosomal recessive, one child diagnosed with ARPKD does not mean subsequent children from the same parents will be diagnosed with ARPKD. However, children who are not diagnosed with ARPKD might still carry the genetic mutation and should seek genetic counseling for family planning, when appropriate.

Cardiovascular

The kidneys play a significant role in filtering waste and extra fluid from the body’s blood supply.

When an individual has high blood pressure, there is an increased force on the vessels throughout the body, which damages and weakens the body's blood vessels. PKD affects the kidneys' ability to properly filter the blood supply as the cysts grow and prevent full kidney function. 

Between PKD preventing the kidneys from fully functioning and high blood pressure damaging the blood vessels in the kidneys, the kidneys lose the ability to filter the body’s blood supply and remove excess fluid. The excess fluid in the blood vessels leads to more pressure in the blood vessels, which can elevate blood pressure even more. This begins a dangerous cycle of kidney damage causing higher blood pressure that then causes more kidney damage.

Other cardiovascular problems caused by PKD include:

  • Abnormal heart valves: Abnormally shaped heart valves can cause decreased blood to flow out of the heart into the aorta and the rest of the body.  
  • Aneurysms: PKD can cause an aneurysm, which is a bulge or weakening in the walls of the body’s blood vessels. In PKD, aneurysms can occur in the aorta, the main artery that carries oxygenated blood from the heart to the rest of the body, and the brain’s blood vessels, which can cause hemorrhagic strokes.

Lifestyle Risk Factors

Unfortunately, there is no cure for PKD. Studies are being conducted to determine if there are any treatments that can limit, or even prevent, PKD from progressing to kidney failure.

In the meantime, many treatments can be tried to control symptoms, help slow the growth of cysts, and help prevent or slow the loss of kidney function. These include:

  • Living a healthy lifestyle regarding not smoking, exercising, getting to and maintaining a healthy weight, and reducing salt intake 
  • Managing blood pressure to keep it within healthy limits
  • Drinking lots of plain water throughout the day
  • Avoiding caffeine

A Word From Verywell

Having an inherited genetic disease, such as PKD, that has no cure and progressively worsens can cause you to feel overwhelmed or discouraged. However, understanding the disease process, identifying healthy lifestyle choices to stabilize and prevent complications from PKD, and finding an expert healthcare professional, such as a kidney specialist (nephrologist), can be beneficial when learning to live a full life with a chronic disease.

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5 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. Cleveland Clinic. Polycystic Kidney Disease. Updated February 3, 2021.

  2. National Institute of Health.  Autosomal dominant polycystic kidney disease.  Updated February 21, 2020.

  3. U.S. Library of Medicine, Polycystic kidney disease, updated August 18, 2020.

  4. Bergmann, C. Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses. Front Pediatr. 2018;5(221). doi.org/10.3389/fped.2017.00221 

  5. NIH. High blood pressure and kidney disease. Updated March 2020.