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Advanced Bilateral Nephrocalcinosis - siblings
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Advanced Bilateral Nephrocalcinosis - siblings

Hi,
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. One Nephrologist said it is MSK, but I was under the impression that MSK is a birth defect, not a genetic disorder. Does anyone have any insight for us? Is MSK genetic? Another specialist said we will either end up with renal failure or we won't...that's pretty vague. Should we see a geneticist? We are worried and are just searching for answers - we have 6 children between the two of us and are worried that we may have passed whatever this is on to them. I'd really appreciate any feedback or related personal experiences! Thanks in advance.
Robin
Avatar_dr_f_tn
Hello and hope you are doing well.

Nephrocalcinosis is a condition in which calcium levels in the kidneys are increased. Now MSK could contribute to the occurrence of Nephrocalcinosis. MSK is a congental disorder and is generally non-hereditary. Now the good news is Nephrocalcinosis patients with medullary sponge kidney have the least risk of renal failure and the best prognosis.

Hope this helped and do keep us posted.
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