Learn About ARPKD

ARPKD is short for autosomal recessive polycystic kidney disease, which often occurs among infancy stage. Now let’s learn more about ARPKD.

What is ARPKD?

ARPKD is a kind of PKD, which is also characterized by fluid-filled cysts. It results from a mutation in PKHD1. We all have two copies of the PKHD1 gene, one from each of our parents. For child with PKD, there is no family history of the disease because each parent carries only one mutated gene. If both the parents are carriers, there is one in four chance of inheriting the faulty gene from the parents, 50 percent of carrier, and one in four chance of normal people.
ARPKD can eventually cause scarring, which destroys the healthy tissues in the kidney. Over time it can lead to kidney failure.

How is ARPKD diagnosed?

Some infants are diagnosed with ARPKD even before birth, because routine ultrasound scan is often carried out to check for physical problems in the baby, which can detect the enlarged kidneys of the baby.
After the baby is born, ARPKD is often diagnosed from its symptoms, such as high blood pressure, blood urine, infection, swollen tummy, anemia, breathing difficulties, vomiting of feeds, etc. If it is suspected, a series of tests will be carried out to help make a definite diagnosis, such as blood tests and scans. Blood tests often show that the kidneys are not working properly and ultrasound scan reveals enlarged kidneys with an abnormal structure and visible cysts.

How to treat ARPKD?

Treatment is usually aimed at controlling each child’s symptoms. For example, hypotensive medicines are often used to treatment high blood pressure. Sometimes it is necessary for them to take several different types of medication. If kidney failure occurs, dialysis or kidney transplant is needed, for they can take over the function of the kidneys.

How is the prognosis of ARPKD?

ARPKD is a severe disease. It does not only affect the kidneys, but also affect the function of liver and lungs. Therefore, the mortality of the infant is very high and most of the children can not live into adulthood. But with the development of the medical science, there will emerge more therapies to improve the prognosis of ARPKD.