5.2. Clinical Presentations of Fabry Disease: Kidneys




Clinical presentation of Fabry Disease is complicated. One of the key organs involved is the kidney. In this case what can be seen is storage in the kidneys, these are potosites. This is a blood vessel that’s got thickening of the blood vessel wall, and the storage in the kidney is actually visible even prenatally, and it continues to increase throughout the life of the patient. You have a list of problems that can happen in the kidney. The damage to the kidneys is not detectable in early childhood, and in fact patients will become symptomatic from other problems prior to developing active renal disease. This is a big challenge. But renal disease has been the leading cause of death in males with Fabry Disease if there’s not treatment available. Kidney failure typically however does not occur until patients are in their thirties to fifties, but you will see albuminuria and proteinuria in adolescence.







get updates