Symptoms and Causes of Autosomal Dominant Polycystic Kidney Disease

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Autosomal dominant polycystic kidney disease (ADPKD) is one of the two types of polycystic kidney disease.  ADPKD causes many cysts (fluid-filled sacs) to grow on the kidneys. These cysts affect the way the kidneys work. They also lead to other health problems, including kidney stones, urinary tract infections, and high blood pressure.

Over time, ADPKD can begin to damage the kidneys. It is possible to have this condition for many years before symptoms become noticeable and you receive a diagnosis.

This article will discuss what ADPKD is, including symptoms, complications, and causes, and when it is time to reach out to your doctor. 

Woman holding model kidney halves

Ben-Schonewille / Getty Images

Frequent Symptoms  

ADPKD is a progressive disease and symptoms will get worse over time. The most common symptoms are kidney cysts, back and side pain, blood in the urine, and high blood pressure.

Kidney Cysts  

ADPKD causes clusters of cysts to develop mainly on the kidneys, causing the kidneys to become enlarged and lose function over time. These cysts are non-cancerous sacs that contain fluid. Cysts are generally slow-growing, mainly on the kidney tubules and liver bile ducts.

ADPKD cysts can vary in size and sometimes grow very large. Having many cysts, especially large ones, eventually leads to kidney damage. Cysts can also develop in the liver and pancreas.  

Back and Side Pain  

Pain is common in ADPKD, and most people experience temporary episodes of pain. A small number of people have chronic, disabling pain. But pain can start early on in the disease course and eventually point your doctor to a diagnosis.  

The more common causes of pain in ADPKD are problems related to the kidneys or cysts.  For example, as cysts grow on the kidneys or other organs, the cysts can be painful or press on neighboring organs. Cysts can also bleed or burst, leading to stabbing pain in the abdomen or pain on the side of the low back called flank pain.

Blood in the Urine

Hematuria (blood in the urine) is a common symptom of ADPKD. It is usually the result of a cyst rupture, but sometimes, it can be caused by the passing of kidney stones.

Hematuria affects between 35% to 50% of people with ADPKD and it may be one of the earliest signs of the condition. Repeated episodes of hematuria are common in this condition.

A hematuria episode usually resolves within two to seven days and the usual treatment is rest and increased fluids. Treatment might sometimes involve antibiotics to treat an infection or shock wave therapy (lithotripsy) to break up kidney or bladder stones. In most cases, however,  treatment is not necessary.

High Blood Pressure  

High blood pressure (hypertension) is a common symptom of ADPKD and occurs in the majority of people with the condition. It is often the result of progressive kidney enlargement and an independent risk factor to end-stage renal disease (ESRD).

According to the  National Institute of Diabetes and Digestive and Kidney Diseases, almost all people with ADPKD who have kidney failure also have long-standing high blood pressure. High blood pressure in ADPK can further damage your kidneys even more, so it is important to do what you can to delay kidney damage.  

Twenty percent of children with ADPKD and the majority of adults are hypertensive before any loss of kidney function has occurred. Cardiac abnormalities are also common and are sometimes present before the development of high blood pressure.  

Rare/Severe Symptoms

There are symptoms of ADPKD that might occur more often when your disease is severe or the disease has progressed to a later stage. These symptoms might include urinary tract infections, kidney stones, and pancreatic and liver cysts.

Urinary Tract Infections  

Urinary tract infections (UTI) are caused by bacteria in the bladder, kidneys, or cysts in ADPKD. Other names used for identifying UTIs are cystitis (bladder infection) and pyelonephritis (kidney infection).

UTIs are common in the general population, but they are more frequent for people with ADPKD, especially females. Frequent UTIs might be a sign of worsening kidney function.  

The most common symptoms of a UTI that affect the bladder are pain or burning with urination and the need to urinate, even if only a small amount of urine passes. If there is kidney involvement, a person might experience fever, chills, and back and/or flank pain.

UTIs are usually treated with antibiotics. For people who get frequent UTIs, doctors might prescribe daily antibiotic treatment to prevent recurring infections.  

Kidney Stones  

According to the Polycystic Kidney Disease Foundation, about 20% to 30% of people with polycystic kidney disease experience kidney stones. The prevalence of kidney stones in the general population is less than 2%.  

Kidney stones are hard deposits made of minerals and salts that form inside the kidney. They are common in ADPKD because cysts block the tubules (the filtering part of the kidneys) and prevent normal drainage. When the urine stays longer than it should, crystals—mainly uric acid and calcium oxalate—will form into stones.

A kidney stone does not start to cause symptoms until it moves around within the kidney or passes to the ureters (the tubes connecting the kidney and bladder). If a stone becomes lodged in the ureter, it might block urine flow and cause ureter spasms.

At this point, you may experience symptoms, including:  

  • Severe, sharp pain in the side, back, and below the ribs
  • Pain that radiates in the abdomen and groin
  • Pain that comes in waves and fluctuates in intensity—pain can change as the stone shifts or passes through the urinary tract
  • Bladder symptoms such as pain or burning with urination, pink, red, or brown-colored urine, cloudy or smelling urine, persistent need to urinate, urinating more, or urinating in small amounts
  • Nausea and vomiting
  • Fever and chills if there is an infection

You should reach out to your doctor if you have severe pain, fever or chills, nausea or vomiting, or difficulty with passing urine.

People who experience kidney stones in ADPKD are treated in the same way people without ADPKD are. Smaller stones can usually be passed, and bigger stones may need to be treated with shock wave therapy.  

Pancreatic Cysts

Pancreatic cysts are saclike fluid pockets found on or in the pancreas—the large organ behind the stomach that produces enzymes and hormones to aid in food digestion. Most pancreatic cysts aren’t cancerous and don’t cause symptoms.

Cysts of the pancreas are more common in people with ADPKD, according to a study reported in 2016 in the journal Radiology. They are also more frequently linked to the presentation of the PKD2 gene in ADPKD.  

Pancreatic cysts are rarely painful and don't usually lead to infection. Ruptured pancreatic cysts are a medical emergency but infrequently occur. Ruptured cysts can cause peritonitis—an infection of the abdominal cavity.

You should see your doctor if you experience the following symptoms related to pancreatic cysts:

  • Persistent abdominal pain that might radiate into the back
  • Nausea and vomiting
  • Weight loss and feeling full after eating very little
  • Fever and chills

Liver Cysts

Many people with ADPKD will also experience cysts on their liver. According to the National Organization for Rare Disorders, liver cysts are more common in people who have had the disease for a long time.

Liver cysts progress much slower than kidney cysts. In ADPKD, women will have more and larger liver cysts than men.

Cysts that occur in ADPKD usually do not disrupt normal liver function, but they might cause symptoms.  Symptoms include:

  • Hepatomegaly (liver enlargement)
  • Pain in the lower part of the back
  • A feeling of abdominal fullness
  • Abdominal pain, swelling, bloating
  • Dyspnea (shortness of breath) with exertion
  • Gastroesophageal reflux (backflow of stomach contents into the esophagus)
  • Jaundice (yellowing of the eyes or skin if cysts block bile ducts)

Sometimes, a liver cyst might cause severe or persistent pain, and surgery may be needed to drain the cyst. It is rare for the liver to become extremely swollen and stop working, but if it does, surgery may be needed to remove the affected part of the liver or to carry out a liver transplant.

Complications

Many complications can occur as a result of severe or late-stage ADPKD. Being aware of these complications can help you stay on top of new or worsening symptoms and get treatment as soon as possible.

Kidney Failure

ADPKD is the fourth leading cause of kidney failure in the United States and worldwide. Also called chronic kidney disease, kidney failure means the kidneys no longer work and cannot meet the body’s needs.

Untreated kidney failure can eventually lead to coma and death. About 7 in 10 people with ADPKD will progress to kidney failure and start dialysis around the fifth decade of their lives.

Symptoms of kidney failure might include:

  • Poor appetite and weight loss
  • Edema (swelling) of the ankles, hands, or feet
  • Shortness of breath
  • Frequent urination, especially at night
  • Itchy skin
  • An overall unwell feeling
  • Erectile dysfunction
  • Amenorrhea (absent periods)
  • Concentration troubles

Vascular System Problems

Vascular system problems affect the arteries, veins, and blood vessels that carry lymph and issues that affect blood flow. The two most common vascular system problems linked to ADPKD are abnormal heart valves and brain aneurysms.

  • Abnormal heart valves: These are a complication of ADPKD that affect some people with advanced disease. Abnormal heart valves can affect blood flow to your aorta—the large artery that carries blood from the heart to the rest of the body.
  • Brain aneurysm: A brain aneurysm is a bulge in a blood vessel of the brain that appears like a berry hanging from a stem. An aneurysm can rupture and cause life-threatening bleeding in the skull that needs emergency treatment. Call your doctor if you experience severe headaches that don’t go away with over-the-counter pain relievers.

Digestive Symptom Problems 

In addition to liver and pancreatic cysts, ADPKD can also cause diverticula, small pouches that push through weak spots in the colon wall. Diverticula can lead to diverticulosis, which can cause problems with bowel movements and abdominal pain.

Reproductive Issues   

Although it is possible for most females with PKD to carry a normal pregnancy, many have high blood pressure and decreased kidney function, which can lead to pregnancy complications, including preeclampsia.

Preeclampsia causes extremely high blood pressure, protein in urine, and swelling of the legs, feet, and hands. It is a precursor to eclampsia, a serious health condition that is dangerous to mother and baby and leads to seizures.  

Males with ADPKD might experience cysts on the seminal vesicles—the two small glands that store and produce the fluid that makes up sperm. Seminal vesicle cysts can potentially cause infertility but this is rare.

People with PKD who are considering having children might want to discuss concerns they have about family planning with a genetics counselor.

When to See a Doctor

It is not uncommon for someone with ADPKD to have the condition for years and not know they have it. ADPKD is often diagnosed in people over 30 years of age because symptoms usually don’t start before that age.

If you develop signs or symptoms of ADPKD, see your doctor. This is especially important if you have a first-degree relative with the condition—a parent, sibling, or even a child.

Causes  

ADPKD is one of the common genetic conditions with an incidence of around 1 in 800 people. It affects around half a million people in the United States, and 2% of all kidney failures result from polycystic kidney disease. ADPKD is often diagnosed in adults ages 30 to 50, but it can also occur in early childhood or adolescence.

ADPKD is the result of a genetic mutation that interrupts the normal development of some of the cells in the kidneys, leading to the development of cysts. Genetic changes in PDK1 and PKD2 are the most common causes of ADPKD.  

Most people with ADPKD have defects of the PDK1 gene, and about 15% of people with ADPKD have the defective PKD2 gene. With ADPKD, a child has a 50% chance of developing ADPKD if one of their parents has a faulty PKD1 or PKD2 gene.

The severity of ADPKD will depend on which of the PKD genes is faulty. People who have a defect in their PKD1 will develop kidney failure much quicker than people with PKD2 defects.

Another type of PKD is autosomal recessive polycystic kidney disease (ARPKD). It is much rarer and only inherited if both parents carry the faulty gene. ARPKD can be fatal in the first month of life, but children who survive will need dialysis or a kidney transplant later in childhood.

Summary  

Autosomal dominant polycystic kidney disease is an inherited condition that causes small fluid-filled sacs called cysts in the kidneys. It is caused by mutations of the PKD1 and PKD2 genes. Signs and symptoms of the condition usually develop between ages 30 and 50, but the condition can also affect children.

In addition to cysts, ADPKD can cause pain in the abdomen, side, or lower back, blood in the urine, kidney stones, and recurrent UTIs. ADPKD will eventually lead to loss of kidney function, which occurs gradually.

If you develop signs and symptoms of the condition, reach out to your doctor right away, especially if ADPKD runs in your family.  

A Word From Verywell

The severity of autosomal dominant polycystic kidney disease varies from person to person. It is often difficult for doctors to predict the long-term outlook. In general, ADPKD progresses slowly, and symptoms tend to get worse with time. Many people develop kidney failure later in adulthood and need dialysis or a kidney transplant.

Fortunately, it is possible to manage ADPKD for many decades with medicine and healthy lifestyle choices. Make sure you follow up with your healthcare professional regularly to manage and limit kidney problems and other disease complications.

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