Autosomal Recessive Polycystic Kidney Disease

What is Autosomal Recessive Polycystic Kidney Disease?

Autosomal recessive polycystic kidney disease, or ARPKD, is a rare genetic condition that causes fluid-filled cysts to grow in the kidneys. These cysts develop before birth or in early childhood. They can interfere with kidney function and lead to kidney failure.

ARPKD is different from the more common adult form of polycystic kidney disease. It appears in infancy or childhood, not adulthood. The condition also affects the liver, causing scarring and abnormal bile duct development. Both parents must carry the gene mutation for a child to develop ARPKD.

About 1 in 20,000 babies are born with ARPKD each year. The condition ranges from severe cases diagnosed before birth to milder cases discovered later in childhood. Early detection through blood testing helps doctors monitor kidney function and plan treatment to protect remaining kidney health.

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Symptoms

High blood pressure in infants and young children
Enlarged kidneys that a doctor can feel during examination
Difficulty breathing due to underdeveloped lungs
Poor feeding and slow weight gain in infants
Frequent urination or blood in the urine
Urinary tract infections that keep coming back
Swelling in the legs, feet, or face
Enlarged liver and spleen
Pale skin and fatigue from anemia
Delayed growth and development

Some children with milder forms of ARPKD may not show obvious symptoms in the first few years of life. However, kidney function typically declines over time, making regular monitoring essential.

Causes and risk factors

ARPKD is caused by mutations in the PKHD1 gene, which provides instructions for making a protein important for kidney and liver development. A child must inherit one mutated copy of this gene from each parent to develop the condition. Parents who carry one mutated copy usually have no symptoms themselves.

There are no lifestyle or environmental risk factors that cause ARPKD. The condition is purely genetic. Families with a history of ARPKD have a 25% chance of having an affected child with each pregnancy. Genetic counseling can help families understand their risk and make informed decisions about family planning.

How it's diagnosed

Doctors diagnose ARPKD through ultrasound imaging that shows enlarged kidneys with multiple cysts. These changes can sometimes be detected before birth during routine pregnancy ultrasounds. After birth, blood tests help assess how well the kidneys are working.

Cystatin C testing provides accurate measurement of kidney function in children with ARPKD. This blood test works especially well in infants and young children because it is not affected by age, body size, or muscle mass. Rite Aid offers Cystatin C testing as an add-on to help monitor kidney function over time. Regular testing helps doctors track disease progression and adjust treatment as needed.

Treatment options

Blood pressure medications to protect kidney function and prevent heart complications
Antibiotics to treat and prevent urinary tract infections
Growth hormone therapy if growth is significantly delayed
Nutritional support with high-calorie formulas or feeding tubes for infants
Dialysis when kidney function drops below safe levels
Kidney transplant for children with kidney failure
Liver-focused treatments for portal hypertension and bile duct problems
Regular monitoring of kidney function through blood tests like Cystatin C
Management of fluid and electrolyte balance
Coordinated care with pediatric kidney and liver specialists

Frequently asked questions

ARPKD is autosomal recessive polycystic kidney disease, while ADPKD is autosomal dominant polycystic kidney disease. ARPKD appears in infancy or childhood and requires two mutated genes, one from each parent. ADPKD typically appears in adulthood and requires only one mutated gene from one parent. ARPKD is much rarer and generally more severe than ADPKD.

ARPKD follows an autosomal recessive inheritance pattern. Both parents must carry one copy of the mutated PKHD1 gene. When both parents are carriers, each pregnancy has a 25% chance of producing a child with ARPKD, a 50% chance of producing a carrier, and a 25% chance of producing a child with no mutations.

Yes, ARPKD can often be detected during pregnancy through ultrasound imaging. Doctors may notice enlarged, bright kidneys and low levels of amniotic fluid. Genetic testing can confirm the diagnosis if both parents are known carriers. Early detection helps families prepare for specialized care at birth.

Cystatin C measures kidney function more accurately in children than standard creatinine tests. It is not affected by age, muscle mass, or body size, which vary greatly as children grow. This makes it ideal for tracking kidney function decline in infants and children with ARPKD over many years.

Life expectancy varies widely based on disease severity. About 30% of the most severe cases result in death in the first month of life due to lung problems. Children who survive infancy often live into adulthood with proper medical care. Many eventually need kidney transplants, which can provide many years of good quality of life.

No, ARPKD also affects the liver in most cases. Children develop scarring and abnormal bile ducts that can lead to portal hypertension, where blood pressure increases in the liver's main vein. Some children need treatment for liver complications in addition to kidney problems. The liver issues may become more prominent as children get older.

Testing frequency depends on disease severity and progression. Many children need kidney function tests like Cystatin C every three to six months. More frequent testing may be needed if kidney function is declining rapidly or if treatment changes are being considered. Your pediatric kidney specialist will recommend a monitoring schedule based on your child's individual needs.

Dietary modifications can support kidney and liver health in children with ARPKD. Limiting sodium helps control blood pressure and reduce fluid retention. Adequate protein is important for growth but may need adjustment as kidney disease progresses. A pediatric dietitian can create a nutrition plan tailored to your child's age, growth needs, and disease stage.

There is currently no cure that reverses the genetic cause of ARPKD. Treatment focuses on managing symptoms and slowing disease progression. Kidney transplant can replace failing kidneys and provide many years of improved health. Research is ongoing into genetic therapies and medications that might slow cyst growth in the future.

Siblings have a 25% chance of also having ARPKD if both parents are carriers. They have a 50% chance of being carriers themselves. Genetic testing can determine if siblings are affected, carriers, or neither. Even if siblings show no symptoms, knowing their carrier status can help them make informed decisions about their own family planning in the future.