UAB Medicine

Inherited and Cystic Renal Diseases - Overview

Inherited kidney diseases run in families. Although, nearly 25% of cases show no history and could result from an abnormal gene. That gene could continue through the generations.

Polycystic Kidney Disease (PKD) is the most common inherited kidney disease. About 90 % of the PKD patients have "Autosomal dominant," which means it was passed down from a parent.

With PKD, fluid-filled cysts sprout in the kidney-blocking kidney function. The cysts can spread to other organs, like the heart and brain. More than half of the patients experience kidney failure and even end-stage renal disease. Generally, this condition appears in adulthood, between ages 30 and 40.

A rarer inherited form is the autosomal recessive PKD which strikes infants and young children. This disease can even form while the baby is still in the womb. People with long-term kidney disease can also get Acquired Cystic Kidney Disease (ACKD).

Unlike the fluid sacs of PKD, Tuberous Sclerosis (TC) forms a solid, but benign mass. However, if it blocks vessels in the kidney, it could cause a dangerous hemorrhage. The masses also appear on the face and usually in the brain. Sometimes this condition is diagnosed as a seizure disorder, and patients typically are developmentally delayed or show signs of mental retardation. The UAB Department of Nephrology treats this disease in the TC Clinic, the first in the Southeast.

Fabry disease attacks males. With this rare condition, males are born lacking an enzyme needed to break down fat molecules in the body. If these accumulate, the results can be deadly. Fabry disease is X-linked, and the mutated gene is passed from mothers to their sons and daughters. Males typically have more serious disease, with kidney, heart, and brain involvement. Females usually have mild disease, but approximately 20% can have as fully developed disease as classically-affected males.

The senses are damaged in Alport syndrome, an inherited kidney disorder. It can cause deafness, eye defects, and kidney damage.