Recently i happen to work up a patient 32 years old male computer engineer who presented for management of CKD eGFR 20ml/min of unknown etiology. Family history was remarkable for his mother death in her 40s after being diagnosed kidney failure and failed kidney transplant. Discussion brought up the issue of Fabry's disease as a cause of CKD.
I went through the literature about it and found that it should be suspected in such scenerios and can be diagnosed by serum enzyme assay. What are the experiences of members? Can the test be ordered in India and is enzyme replacement therapy available ?
