Aa
A
A
A
Close
Medullary Sponge Kidney Disease (MSK) Community
515 Members
Avatar universal

Advanced Medullary Nephrocalcinosis

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
3 Responses
168348 tn?1379360675
COMMUNITY LEADER
Hi,

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.

C~
Avatar universal
I was told when I was diagnosed that it was most likely genetic. If your concerned that them get an xray with contrast to see if the tubes in their kidneys are dialated
Avatar universal
Thank you both!!
Have an Answer?
Top Digestive Answerers
Learn About Top Answerers
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Learn which OTC medications can help relieve your digestive troubles.
Is a gluten-free diet right for you?
Discover common causes of and remedies for heartburn.
This common yet mysterious bowel condition plagues millions of Americans
Don't get burned again. Banish nighttime heartburn with these quick tips
Get answers to your top questions about this pervasive digestive problem