Kidney
Rare Kidney Disease Foundation
I had a Kidney transplant in February 2021. My younger sister had her kidney transplant in January 2023. And our older sister is on the waitlist for a kidney transplant.
We all knew there was a family connection not only because we each had CKD but our mother and her father both died from kidney disease. We just did not know what the connection was.
My sister’s transplant nephrologist put her in touch with Dr Anthony Bleyer a Wake Forest nephrologist who has been leading the Wake Forest Rare Inherited Kidney Disease team for 25 years. After specialized genetic testing she was found to be positive for gene mutation called MUC-1. Since then, my other sister and I as well as other family members have tested positive also.
Currently there is no cure. The only treatment is dialysis and transplant. While that is discouraging, Dr Anna Greka a nephrologist with Harvard and MIT has been working on a treatment that that would halt CKD progression. That is so very encouraging! This treatment should keep many CKD patients from ending up on dialysis and needing a transplant.
With patient trials within the next 5 years and for patient trials to be successful, affected patients need to be identified. Dr Bleyer believes that every nephrologist had an ADTKD (Autosomal Dominant Tubulointerstitial Kidney Disease) family in their practice. These are families that are carriers of this gene mutation. Those families need to be located.
So, what can be done now? The Rare Kidney Disease Foundation website (https://www.rarekidney.org) contains information for both potential patients and physicians. Anyone who thinks they might be a potential patient or knows someone or a family who possibly fall into this category should check out the website. From there signup is available for evaluation and testing in addition to additional disease information.
Whether you have been transplanted or are waiting, talk to your nephrologist and have the doctor look at the RKDF’s website. There is a section specifically for physicians. Because of the rarity of this gene mutation, many doctors are just not aware.
