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My sister (28 yo) and myself (34 yo) have recently been diagnosed with bilateral medullary nephrocalcinosis. Mine is advanced and I also have bilateral renal cortical thinning. Our 24 hour urine tests came back fairly normal - my sister's calcium level was elevated and my total urine output was low. We have had no luck getting any answers as to the cause. Should we just let it go and not worry about it or seek out a diagnosis? We've been told it could be MSK (which I didn't think was genetic), an as of yet unnamed genetic defect, and simply "I don't know" by different doctors. None have given the same diagnosis. Should we see a geneticist? Are there any tests that can be run to give us a definitive diagnosis? We both suffer back and flank pain that comes and goes and many times I have a hard time urinating with very little output. Thanks in advance.
Your case sounds complex. MSK does not usually lead to cortical thinning, so I wonder if something else might be going on like reflux nephropathy. People with MSK or similar diseases with a lot of nephrocalcinosis also almost always have more wrong on their 24 hour urine tests. I would suggest you seek a nephrologist or urologist at the nearest university medical center that specializes in kidney stones for further evaluation.
Thank you so much for your response Dr Rudnick! I saw a nephrologist in Dallas last week who believes we have renal tubular acidosis. He has seen all of the ultrasound pictures and urine test results and has ordered further testing so hopefully we will have an answer soon. This has been a very frustrating process. Three more quick questions - if I have bilateral renal cortical thinning does that mean that my kidney function is already being affected? Without treatment, will the thinning just continue and lead to renal failure? Is there a specific test that can be run to diagnose reflux nephropathy? I sincerely appreciate you taking the time to answer all of my questions!! Have a great week!
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