Hi everyone! My name is Daniel and I was diagnosed with Dent's disease at a young age. I was an intern at the Mayo Clinic this past summer and I will probably also be attending the Dent Patient Day at Mayo on June 8th. In preparation, any Dent related questions that you would be interested in having addressed during this gathering?

Here are few that come to my mind: 1.Is there anything that has been proven to decrease the progression of Dent's? Specific diet or medications? 2. Is there any research/studies being done presently to help stop the progression of Dent's? If yes, what does this research consist of? 3. Would use of stem cells be a viable treatment in the near future?

I would like to know about whether a carrier of the gene can donate a kidney to someone affected by Dent's.

Is there any matching of genotype with pheno type? If we know our kid's genetic mutation, can that tell us anything about the progress of his disease?

Great questions. Also, Is the loss of protein through the kidneys due to DNA of the disease or by the scarring of the kidney tissue over time? What role does calcium play in the disease? If diet can help in the latter stages of this disease can it help in the early stages of this disease? Do you have to wait out the disease before you can donate a kidney?

I'd like to know everything already mentioned, especially whether a carrier of the gene can donate a kidney to someone affected by Dent’s. I don't know if I can attend, and I assume many on the list won't be able to. Can someone please share the notes about the discussions afterward? I know I'm asking way ahead of time, but thought I'd ask anyway.

I have a few questions about kidney stone risk in Dent patients: 1. Why exactly are Dent disease patients at a higher risk to form kidney stones? 2. Also, why are males more at risk than females to form stones? (more of a general question) Bleujeanne, although nothing has been prepared yet, i'm almost certain that these questions will be presented (by Lada, Dr. Lieske and/or myself) and posted afterwards for those who could not attend.

Yes, we will make an official presentation based on your questions and we can think of ways how to best make it available.

Is there a potential for logging onto the presentation via Skype or could you make a video replay available to those who can't attend?

Thanks, this is a valid question. I will look into it and will let you know. Lada

I am happy to take notes to share with anyone who cannot attend in June. I am wondering about the process for genetic testing if a patient has Dents but wants to have biological testing. What are the chances of offspring having Dents. Also, we understand that there is currently a study in progress at Northwestern, where bone marrow from the donor is transplanted into the recipient prior to kidney transplant, and that this reduces or eliminates the need for anti-rejection meds after the kidney transplant. What is the status of this study and what are the criteria for being considered for this procedure?

We offer the genetic testing as part of our research protocol. Any patient with clinical diagnosis of Dent or a family member at risk can get tested. Regarding inheritance, a man with Dent will have sons without the disease and will have daughters who will be carriers. A women who is a carrier will have 50% chance for sons to have the disease and 50% chance for daughters to be the carriers. I am aware of the study but I'm not familiar with the status of the recruitment. Lada

I am obviously also most interested in knowing the status of the Northwestern study regarding bone marrow transplantation to avoid taking anti-rejection meds. It would be wonderful if it did work!

I would be interested to know how important a low oxalate diet is in the early stages. We eat largely vegetarian, and many of the foods used for protein are high in oxalate. Also, my son's frame is much smaller than my other two children's. I wonder if this is related to the disease, as I have seen this with another family. I would also like to know of any research on alternative medicine, such as acupuncture or reflexology. Finally, any suggestions on increased endurance? I notice that my son with Dent's tires easier...one nephrologist suggested that I may actually over-restrict sodium and we have added magnesium. Thoughts related to this would be welcome.

Very good questions, which I would also like to have the answer to! Regarding the oxalate, I agree it is so frustrating when you are trying to eat right and vegetarian, that many excellent food sources are high in oxalate. Re: magnesium. I believe our neprologist told my son NOT to take magnesium supplements, as his kidneys are not able to "process" them because of his CKD. How old is your son? And how low do you estimate you have been able to lower his sodium intake (daily average estimate)?

My son is 13 years old. He hardly eats any processed foods. Fast food is not popular here, so the only thing I have to fight is the occasional trip for pizza (I don't understand why restaurants add so much salt to red sauce?) Most days, my son has less than or approximately 1500 mg sodium, except about once a month, when he goes out for pizza and I look the other way.

Wow, that sounds excellent to me! I have tried for years to reduce sodium, but although my son's sodium intake has always been lower than other boys or young men his age around him, it has always been hard to reduce drastically as he craves salty food and not sweets. Obviously, now that he is older, he is in charge of his diet, specially as he is mostly away from home. I am hopeful we have trained him well! And yes, going out is hard. Even normal restaurants' food is generally high in sodium, specially soups. We probably started being aware and trying to reduce the sodium content of his food when he was about 5 years old, and he is now 21. He has always had a lot of endurance and energy, but I am quite sure that his average daily intake of sodium is higher than your son's. But I don't know if that is a related factor or not.

Question about dialysis and tranplants: At what stage, should we be looking into transplantation: certain percentage of kidney function, or wait until symptoms occur? Better to try to skip dialysis or no difference with being on dialysis while waiting for transplant, other things being equal?

It is better to skip dialysis and go directly to transplant. Patients can officialy get on the list when their GFR (glomerular filtration rate) is below 20 ml/min. They can start evaluation earlier, when they are approaching this number. Lada

Lada, my son is 8 years old, his build is small compared to his friends. On Saturday presentation if you can cover the best diet for Dent's patients to slower the progression, and preventive medications/suppliments that would be of great help. Also if you can collect patients current vitals (important medical readings) and treatment medicines thats been administered will also be helpful. Future treatement options..

If only we knew!!! That's why we need you to contribute with your own information so we can put it together and try to figure out! Any important feedback will be shared with you, I promise. I think that the survey will be one of the ways to get the information faster back to the patients. Research takes a long time, unfortunately, but we are making steps. Regards, Lada