Here is a little history: I’m 25 years old and was diagnosed with CKD when I was 17 years old. I have cysts on my kidneys and currently my kidney function is 23%. My electrolytes are chronically low, mostly potassium and bicarbonates. Sometimes my phosphorous and magnesium are low as well. All of these can drop below normal ranges in spite of me taking supplements everyday 2-3 times a day. I was originally diagnosed with nephronophthisis but more recently my nephrologists have said that may not be the correct diagnosis. I have been to multiple hospitals (Barnes, Mayo, and Northwestern) and it seems like every time I go I have the same initial reaction: We need to figure out how I’m losing electrolytes, verify the diagnosis, etc… But when the results come back from multiple tests the doctors don’t know what to tell me and I’m back to square one. My questions to you are: should I be concerned that there isn’t a concrete diagnosis for my disease? Should I keep pushing to find a diagnosis or will it matter in the long run since the treatment is going to be a transplant regardless?

Nephronopthisis is a very rare autosomal recessive genetic disorder of the kidney.  I do not have a great deal of experience with this disease.  Experts at the institutions that you mention should be able to provide a specific diagnosis but there is no known treatment other than to try and correct the electrolyte abnormalities that you describe.  You can review the information on the National Institutes of Health web site at:   https://ghr.nlm.nih.gov/condition/nephronophthisis

I suggest that you continue to work with the experts at these tertiary medical centers for advice and treatment.

 

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