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What is Autosomal Polycystic Kidney Disease?

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  • Written By: Mary Elizabeth
  • Edited By: Bronwyn Harris
  • Last Modified Date: 24 August 2018
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There are several kinds of Polycystic Kidney Disease (PKD), a genetic disorder that results in numerous cysts growing not only within the kidneys, but also in the liver and pancreas. In addition, it can lead to problems in other organs, including the brain and the heart. Autosomal Polycystic Kidney Disease refers to the two main forms of this disease: Autosomal Dominant Polycystic Kidney Disease and Autosomal Recessive Polycystic Kidney Disease.

The gene for the dominant form of Autosomal Polycystic Kidney Disease will get passed to a child in 50 percent of cases in which a parent has it. It may also occur spontaneously, which means that a person can develop it even if neither parent had it. Cases of the second sort are far fewer.

In some cases, this form of Autosomal Polycystic Kidney Disease does not cause symptoms for several decades. This has led to it being referred to as Adult Polycystic Kidney Disease. Nevertheless, in some individuals, the cysts begin growing at an earlier age and cause symptoms during childhood.

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Although there are other reasons that cysts may form in the kidneys, one of the factors that differentiates the cysts of this form of Autosomal Polycystic Kidney Disease is that they can number in the thousands. Untreated, a cystic kidney can weigh up to 30 pounds (13.6 kg), whereas the normal weight of an adult kidney is about .25 pounds (.11 kg). The cysts eventually take over the normal kidney structure, and reduce the body’s ability to filter waste, leading eventually to kidney failure, also called end-stage renal disease (ESRD).

There are serious complications of the dominant form of Autosomal Polycystic Kidney Disease, besides cysts in other organs. These include urinary tract infections, high blood pressure, kidney stones, diverticulosis. Possibly the most dangerous is bulges in the walls of blood vessels, also called aneurysms, in the brain. For this reason, anyone with Autosomal Polycystic Kidney Disease who develops a severe headache should seek medical treatment rather than take painkillers.

The recessive form of Autosomal Polycystic Kidney Disease is caused when a child inherits two copies of the abnormal gene, which can happen even if parents do not have PKD. Although the chances of a child developing Autosomal Recessive Polycystic Kidney Disease are far less than developing Autosomal Dominant Polycystic Kidney Disease, the symptoms begin much earlier, sometimes even before birth. This has led to it being called “infantile PKD.”

Children with the recessive form of Autosomal Polycystic Kidney Disease often develop kidney failure during their childhood. In the most severe cases, babies may die shortly after birth. Nevertheless, some children with this form do not develop symptoms until later. Additionally, although some of the symptoms are similar to the dominant form—high blood pressure and urinary tract infections, for example—the recessive form almost inevitably results in liver, and sometimes spleen, damage, and may also cause low blood cell counts, hemorrhoids, and varicose veins.

Treatment of both kinds of Autosomal Polycystic Kidney Disease usually aims at controlling symptoms of high blood pressure, pain, and infection. Dialysis is often indicated if or when the kidney’s fail. Transplants are also used, and transplanted organs are not subject to cysts.

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