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.