Autosomal Recessive Polycystic Kidney Disease: An Introduction

Polycystic kidney disease (PKD) is a genetic condition that causes the growth of numerous fluid-filled cysts in the kidneys. These cysts slowly replace much of the mass of the kidneys, reducing kidney function and leading to kidney failure.

 

Autosomal recessive polycystic kidney disease is one type of polycystic kidney disease. While it is rare, it is often lethal.

 

Symptoms of autosomal recessive polycystic kidney disease can begin before birth, so it is often called "infantile PKD." Children born with autosomal recessive polycystic kidney disease usually develop kidney failure within a few years. The severity of the disease varies. Babies with the worst cases die hours or days after birth. Children with an infantile form of the disease may have sufficient kidney function for normal activities for a few years. People with juvenile polycystic kidney disease may live into their teens or twenties, and usually have liver problems as well.

 

Autosomal recessive polycystic kidney disease is estimated to occur in 1 in every 20,000 to 40,000 people.