Kidney
FSGS & ACTN-4 gene
I am a FSGS based kidney transplant person. Almost 2 years and all is good. I only found out after my transplant that based upon a DNA sample I donated for research, that I had a EXTREMELY rare genetic cause for the FSGS. Recent studies have linked FSGS ( rare in its own right) to a defect in the ACTN-4 gene. A check on my DNA showed my ACTN-4 gene to be damaged. FSGS may show up on only 2-5% of cases of End Stage Renal Disease and identified genetic causes are a small percentage of those. Possibly around 5%. LESSON - If asked to donate some DNA for research, please consider doing so. And if any of you have identified a defect in this gene as a cause of your kidney disease, I would love to hear from you. There may be only 50 or so of us in the US.....
