The deficiency of the this enzyme allows accumulation of certain complex sugars in many tissues of the body and therefore these organs can not function properly. It is diagnosed by a blood sample and can be determined prenatally by testing the cells retrieved by amniocentesis for the enzyme. Urologic manifestations of Fabry s disease include blood in the urine and mild protein in the urine. Renal failure in men begins in the fifth decade of life. This occurs earlier and is more severe in the group B and AB blood type individuals.
Renal transplantation is an option.
The kidney graft may accumulate the complex sugars, but is not been reported to cause loss of graft function. This information is provided for general medical education purposes only. Please consult your physician for diagnostic and treatment options pertaining to your specific medical condition. We can also arrange local accommodations through this number if this is your need. Please bring any physicians notes and lab test results that you may be able to obtain.