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.
From what I recall being told it's not been proven to be genetic, however it tends to follow along families. But what is difficult to determine is the fact that most people don't realize they have this condition until they are tested and usually those only with stones have symptoms that take them to the doc in the first place -- so nobody really knows just how many have this disorder to begin with and are asymptomatic.
In my family my mom, dad, and brother all have had stones (me too) but I'm the only one who's had an IVP with contrast that confirmed the MSK diagnosis.
So far none of my children have the condition that we are aware of.
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