BWS Teen with calcification in kidneys

[AkRosanna]

Hello,

We just found out that I was supposed to be doing an annual screening for calcification in the kidneys. I hadn't done any screenings since my son was 8 and we were checking for the Wilms tumors. He is now 16 and we are working on what we think is an unrelated back issue (84 degree kyphosis which requires major surgery for correction). Anyway, the renal Scan shows that he does have calcification in his kidneys. We've been referred to a nephrologist to discuss the test. I think this means he has medullary sponge kidney or MSK. Any other BWS parents of adolescents with this? If so, is there anything you can share with me about it?

[BobBaker Administrator BWS Support]

I would be interested to know where you live. Dr Beckwith has advised parents to be aware of medullary sponge kidney. Our son who is now 34 has had kidney stones though I am not aware that annual screening should be undertaken. Any information would be welcome.

Bob Baker

BWS Support Group UK

[AkRosanna in reply to BobBaker]

Hello Bob, we live in rural Alaska and first heard of this scan last week when we traveled to Anchorage to attend a genetic clinic. Since there are no geneticists in Alaska, they bring a team up once a month, and I believe the doctor was from a Pediatric science hospital in Oregon. He is the one that told us about it and had us go get the renal ultrasound right away. We had carried a recent blood test with us because they wanted to check for a thyroid problem since my son had dizziness problems. The doc also told us to discontinue vitamin d and calcium supplements because of the possibility of calcification. I found a reference to the scan in this report also which by the way, lists this group as a resource.

ncbi.nlm.nih.gov/books/NBK1...

[AkRosanna]

Bob, find the best reference under the management chapter in the surveillance section. It is mentioned in other places throughout the document as well. Sounds like there's protocol for adolescents but nothing yet for adults because of lack of data maybe?

[AkRosanna]

We just got the 24 hour stone risk assessment back from Mayo clinic. We also had a CT scan. My son has multiple renal calculi in both kidneys and a small cyst in one. He is "leeching" calcium. I took him to Shrine hospital in Chicago 2 weeks ago where we met with the head spine surgeon for his back surgery. Since we started the quest to fix his back, I asked every doctor along the way if the back problem could be related to the syndrome. Three orthopedic doctors and a geneticist said no. But now, they want to do a bone density test and probably start him on thiazide. It sounds like his bones may be weakened because of this and that it WILL impact the back surgery which is now scheduled for the spring. Does your son medicate for his stones? And why is it so hard for me to find how treatment for this should occur for bws folks? All I can find is statistics showing how many reports of nephrocalcinosis and msk there are in bws. Nothing showing how it may need to be handled because of the syndrome. Only reccomendations to see a nephrologist. Who tracks bws in adolescents? Is there someone who I can turn to for kidney data that will help me to talk to these doctors?