Autosomal Recessive Polycystic Kidney Disease

In this section:

• What is autosomal recessive PKD?
• What are the early signs of ARPKD?
• What are the complications of ARPKD?
• How do health care providers diagnose ARPKD?
• How do health care providers treat the complications of ARPKD?

What is autosomal recessive PKD?

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that affects 1 in 20,000 children.⁸ A fetus or baby with ARPKD has fluid-filled kidney cysts that may make the kidneys too big, or enlarged. ARPKD can cause a child to have poor kidney function, even in the womb. ARPKD is sometimes called “infantile PKD” because health care providers can diagnose it so early in life.

Poor kidney function can cause breathing problems that can threaten the life of a fetus or baby. About 30 percent of newborns with ARPKD die within their first week of life.⁸ A baby with ARPKD who survives birth and the first few weeks of life has a good chance of surviving into adulthood. However, children or young adults with ARPKD will likely need medical treatment their whole life.

“Autosomal recessive” means that for a child to have this disorder, both parents must have and pass along the gene mutation. If only one parent carries the mutated gene, the child will not get the disorder, although the child may get the gene mutation. The child is a “carrier” of the disorder and can pass the gene mutation to the next generation.

How quickly ARPKD progresses to kidney failure is different for each child. The sooner a fetus is diagnosed in the womb, the better the child’s outlook. Getting good prenatal care is important for increasing a child’s survival rate. Working with a health care team as soon as possible can help parents manage their child’s PKD.

What are the early signs of ARPKD?

The early signs of ARPKD often appear during the first few months of life and in the womb. Early signs of ARPKD in the womb can cause serious health problems. For this reason, it is important for a woman who is at risk for passing PKD to her children to get prenatal care as soon as she learns she is pregnant.

Enlarged kidney. An early sign of ARPKD is an enlarged kidney. Enlarged kidneys put pressure on a fetus’ or child’s lungs, which can make lung growth and breathing harder. A health care provider can see enlarged kidneys in a fetus or an infant using ultrasound imaging, also called a sonogram.

Growth failure. Due to decreased kidney and lung function, children with ARPKD are usually smaller-than-average size, a condition called growth failure.

Low levels of amniotic fluid. Decreased kidney function can cause low levels of amniotic fluid in a mother’s womb. Low levels of amniotic fluid can cause breathing problems in the fetus.

Some people with ARPKD do not develop signs or symptoms until later in childhood, or even adulthood.

What are the complications of ARPKD?

Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications.

Breathing problems. Babies with the most severe cases of ARPKD often die hours or days after birth because they cannot breathe well enough to live. Their lungs do not develop as they should in the womb.

Kidney failure. Children born with ARPKD often develop kidney failure before reaching adulthood.

Liver problems. Liver scarring occurs in all cases of ARPKD and is usually present at birth. Liver scarring can lead to decreased liver function and other liver problems. However, liver problems from ARPKD tend to become more of a concern over time.

High blood pressure. Most children with ARPKD have high blood pressure.⁸ High blood pressure increases a child’s chances of heart disease and stroke. High blood pressure can also further damage a child’s kidneys.

How do health care providers diagnose ARPKD?

Health care providers diagnose ARPKD with ultrasound imaging. The test can show enlarged kidneys and liver scarring.

How do health care providers treat the complications of ARPKD?

Enlarged kidney. Kidney enlargement cannot be prevented or reversed. One or both kidneys may need to be removed if their size makes breathing impossible. Children who don’t have working kidneys will need dialysis or a kidney transplant.

Growth failure. A health care provider may treat growth failure with nutritional therapy. In severe cases of growth failure, a health care provider and a child’s parents may consider treatment with human growth hormone. Human growth hormone is a prescribed, man-made hormone that can help children grow.

Breathing problems. Health care providers treat infants with breathing problems with artificial ventilation, which allows them to breathe with the help of a machine.

Kidney failure. Peritoneal dialysis is the preferred method of treating children with kidney failure, although health care providers also use hemodialysis. Kidney transplants may be a limited option for infants because of their size.

Liver problems. If serious liver disease develops, some children may need to have a combined liver and kidney transplant.

High blood pressure. A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

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