Anderson-Fabry disease (AFD) is a rare inherited condition that can impact multiple body organs. One system severely impacted is the kidneys, sometimes leading to end-stage kidney disease (ESKD). It is important to understand how this uncommon disease specifically influences the kidneys and causes ESKD. Catching it early through timely diagnosis and treatment helps patients effectively manage this genetic problem and maintain good quality of life.
AFD occurs due to shortage of an enzyme called alpha-galactosidase A. This leads to buildup of a fatty substance called globotriaosylceramide (Gb3) in cells across the body. Over time, this accumulation can damage kidneys and ultimately cause ESKD. In ESKD, the kidneys become unable to filter waste and excess fluids from blood. In AFD patients, Gb3 deposits make it harder for kidneys to perform their vital filtering function.
Symptoms may include protein in urine, blood in urine, and decreased urine output – signs that kidneys are malfunctioning. Left unaddressed, this can progress to ESKD requiring dialysis or kidney transplant. To slow kidney damage, doctors may recommend enzyme replacement therapy, kidney transplantation, or dialysis for ESKD.
There are two types of AFD. Classic type appears in males from ages 4-8 with early pain episodes. Late-onset type impacts males later with heart, kidney issues but no pain. AFD is identified through newborn screening detecting low enzyme levels or gene testing confirming mutations. Supportive care and preventing complications through medications, transplants aims to improve quality of life.
