Kidney Disease Cause Unknown? | Fabry Disease May Be Possible

Classic Fabry disease is a rare genetic disorder which occurs in approximately 1 in 40,000 males and 1 in 20,000 females. Fabry disease is caused by a variant in the GLA gene, which results in decreased production of an enzyme that breaks down a fatty substance called globotriaosylceramide or GL-3. This leads to a buildup of GL-3 in cells throughout the body. Over time, Fabry disease can lead to chronic kidney disease (CKD) and end-stage renal disease (ESRD or kidney failure). In addition to multiple symptoms, which can impact quality of life, it can also cause damage to the heart and brain. Symptoms and severity of Fabry disease can vary from person to person, even within families, and the disease has no cure.

Since Fabry disease is complex and the symptoms are non-uniform, the disease often goes unrecognized or misdiagnosed until patients have life-threatening complications such as stroke, heart attack, or kidney failure. With a timely and accurate diagnosis, doctors can help manage Fabry disease earlier.

Learn more at www.KidneyFund.org/Fabry