The different types of polycystic kidney disease(PKD)

The different types of polycystic kidney disease(PKD)

There are two primary inherited forms of PKD and one non-inherited form:

1. Autosomal dominant polycystic kidney disease (inherited)

The most common inherited form of polycystic kidney disease is autosomal dominant PKD(inherited), accounting for about 90 percent of all PKD cases. "Autosomal dominant" means that if one parent has the disease, there is a 50 percent chance that the disease will pass to a child, and that both males and females are equally affected.

Usually, at least one parent must have the disease for a child to inherit it. In 10 percent of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, autosomal dominant PKD occurs spontaneously after conception. Parents would not be at increased risk to have additional children with PKD. But individuals with PKD have a 50/50 chance of passing the gene on to their children.

Autosomal dominant polycystic kidney disease is often called the adult polycystic kidney disease. Symptoms usually develop between the ages of 30 and 40 (but they can begin as early as childhood), and may include the following:

abdominal pain

detectable abdominal mass

pale color to skin

bruise easily

high blood pressure

kidney stones

aneurysms (bulging of the walls of blood vessels) in the brain

diverticulosis (pouches in the intestines)

urinary tract infections

hematuria (blood in the urine)

liver and pancreatic cysts

abnormal heart valves

Autosomal dominant PKD may occur with other conditions including:

tuberous sclerosis - a genetic syndrome involving seizures, mental retardation, benign tumors, and skin lesions

liver disease

severe eye problems (cataracts or blindness)

The symptoms of autosomal dominant PKD may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

Diagnosis of autosomal dominant PKD may include the use of imaging techniques to detect cysts on the kidney and other organs and a review of the family history of autosomal dominant PKD. There are three different dominant genes which have been identified that further subdivide autosomal dominant PKD into PKD1, PKD2, and PKD3.

A physician will establish a treatment protocol for autosomal dominant PKD only after careful consideration of the child's symptoms and medical history. Treatment may include:

pain medication

surgery to shrink cysts and relieve pain

treatment for high blood pressure

treatment for urinary tract infections

dialysis

kidney transplantation

2. Autosomal recessive PKD (inherited)

Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease, if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25 percent chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected. Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound.

Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. There are four different types of autosomal recessive PKD, depending upon the child's age when symptoms become evident:

perinatal form - present at birth

neonatal form - presents within the first month of life

infantile form - presents between 3 and 6 months of age

juvenile form - presents after 1 year of age

Children born with autosomal recessive PKD may develop kidney failure within a few years and often experience the following:

high blood pressure

urinary tract infections

frequent urination

The disease also usually affects the liver, spleen, and pancreas, resulting in low blood cell counts, varicose veins, and hemorrhoids.

The symptoms of autosomal recessive PKD may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. Ultrasound examination of kidneys of relatives may also be helpful.

Your child's physician will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the child's symptoms and medical profile. Treatment may include:

treatment for high blood pressure

treatment for urinary tract infections

hormonal therapy

dialysis

kidney transplantation

3.Acquired cystic kidney disease, or ACKD (non-inherited)

Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in persons who have kidney failure and who have been on dialysis for a long time. Therefore, it tends to occur later in life and is an acquired, not inherited, form of PKD.