Hi. I am starting this thread to share information and provide support to parents of young adults or young adults themselves that have been dealing with Dent's since early childhood. My son is now 19, but was diagnosed when he was 3. He has been K-Citra (or other forms of potassium citrate) and allopurinol since the beginning. A few years later hydrochlorothiazide was added and then fosinopril (or monopril), so he now takes the four medications. He also took growth hormone for 6 years (ages 12 to 18). Is anyone taking different meds?

Because it is such a rare disease, his doctors have always said the meds are kind of experimental and are not completely sure they work. Is this the case of anybody else? My son's kidney function has been slowly decreasing throughout the years, and if he follows my dad and uncle's path, even though they had no medication or follow up during their childhood, he will also be in need of dialysis or kidney transplant in his 30's. Another question re: Diet, I don't know if everybody's case is a bit different, but do you try follow a lower sodium (and oxalate) diet or not an issue?

My son was diagnosed about age 10, and was showing clear symptoms at age 5. He's 12 now. Nevertheless, I'll be following this thread with the greatest interest. Thanks for starting it!

HI Juuliedowns. What do you mean with clear symptoms? My 19 year old son has never had any obvious symptoms (he never told his friends) and has led an active, normal life until now, except for meds and doctor visits (and a bugging mom, particularly about lowering the sodium in his diet). Anyway, the only obvious symptom my son has is the foamy pee. We only found out at 3 because he was no longer wearing diapers and the pediatrician did a routine dip stick test on his urine sample that came out with increased protein and blood. Although we would have known anyway as my mother said she was also getting concerned when she visited and saw my son had foamy pee, as she lived through my dad's illness, My son had quite a few nervous tics around ages 10 to 16, but very seldom now, but doctors said not related to kidney disease or meds.

Mason had some sort of stones at age 5, possibly oxalate crystals, and it triggered an investigation. So the "symptoms" I'm seeing are blood readings and pee readings. Protein in the urine, trace of blood in the urine, calcium in the urine. Although, he also had more external type symptoms that I was seeing, and I think they're part of the Dents, constant excessive thirst, and a craving for protein, such as cheese and meat. But you're right about the rest of his life. Pretty darn normal, except when they were treating for the NS.

These posts seem v familiar. We were only alerted to Jake's Dents after a urine infection which identified traces of protein. Apart from that there are no other obvious symptoms and he is turning 13 next month. I think one important thing to bear in mind is that on the one hand there have been major advances in genetic screening which have all lead to us having Dents identified, however there have not been commensurate progressions in the medical treatment of this condition. My sons grandfather ultimately had a kidney transplant at 65 but at that time (1986) they had no way of diagnosing a genetic condition. In some ways our predecessors had less diagnostic information but didnt have to worry from a very early age as they didnt know about Dents! Hopefully sites like this will accelerate the ultimate understanding and treatment of Dents. In the UK the specialists seems to be less aggressive in prescribing meds and tend to adopt a real wait and see approach. I think the US are well ahead in taking proactive action and thats a good thing. Paul

Juuliedowns: You are making me realize why my son has always liked cheese and meat so much! I didn't know it had to do with Dents. I probably have no hope of convincing him to be a vegetarian, which I have always thought would be better for him! And Paul, you are so right about how now we have isolated the gene for Dents and know at an early age, but we are not much further in treatment. Again, here in Canada we have always been told that the 4 meds my son takes are kind of experimental; just hoping to slow the progression which lately I am not so sure is working. And my cousin's son in New Jersey didn't get any better treatment either, if at all. So I often wonder if all these years of meds and doctor visits have been of any use or just a waste of time, effort and money. Your son's grandfather had a transplant at the late age of 65? Was he on dialysis before? I ask because in my family it would be more in their 30's, which is when my dad and uncle died as dialysis and transplant were just starting in the late 1950's.

My son didn't eat cheese until he was in college, and was a vegetarian for six years (late high school through college), and we didn't see any changes. That includes growing stones. We also know that taking the meds is experimental, but we all totally support it. My father had no treatment until he started to have kidney failure late in his 30's, in the late 1960's. I think it's well worth trying to slow down kidney failure. I especially think the doctor visits since my son was diagnosed with kidney disease at 6 months old has been well worth it. Documenting each patient's symptoms, especially since everyone seems to have different levels at different ages, is invaluable. Jeanne

This is all so familiar! While my son has not had growth issues and has not had stones to date, the excessive thirst, foamy pee, and protein cravings are characteristics I have always seen in my son and remember from my childhood with my dad. One other commonality between the 2 of them was a tendancy toward dehydration. I can chuckle about it now but until my son was diagnosed, I was actually starting to think that my husband was the odd one because was so different than my dad and my son in these ways.

I was wondering weather a illustrated brochure about Dent disease would be something young adult Dent patients would find beneficial. Of course, this requires time and money. You should use the opportunity of the Dent NIH grant. In July 2011, 2 years of the grant will already expire and with that, my official involvement with the grant. I will have less time to work on it as I will be bombarded with other obligations, but there is still 3 more years for the grant at Mayo, meaning there is still money to do Dent-related work. As time runs quickly, it should be used wise. Some of you are more active and potentialy could take over the leading role in organizing parents and patients in a patient advocacy group that could in the future collect donations for further research. We have experience with patient advocacy groups from other kidney stone diseases and can be of assistance. Think about that!

Lada, what do you think an illustrated brochure would have in it? Can you please share a little more about what you're thinking? Thanks, Jeanne

Maybe a chart of X-linked inheritance, descriptions of main features of deasese, images of nephrocalcinosis and stones on US , photographs of Dent biopsy results, etc. My idea of patient education in general in medicine is not to patronize the patients but to present them what we know in an understandable form. I think that the patients would be more likely to follow advice if they knew/see what we know. This, maybe, would be a particularly good aproach for the young adult patients. Lads

Lada, I believe that your idea of a possible brochure or chart is a good one. For anyone to know that they have a disease that could affect their lives so much it would help to know what is known about it. Also, it would be good for them to understand that they are not alone. In addition, it would not hurt to show something like that to the doctor(s) who may not even consider the disease. My experience was that my son's doctor at first,did not really believe my suggestion that he could have Dent's. I Good idea and I would be willing to participate in any group to accomplish this goal.

Thanks, that's good to know. How did you get the idea to suggest Dent to the doctor?

Whispers of males in my father's extended family having kidney problems. Too much of a coincidence that my son and my father both had kidney issues. But it was the article in the Syracuse Herald, April 28th 1996 that gave me the initiative to research my father's maternal family line. After I had gathered enough information it was evident to me that my son just might have Dent's. My husband and I mentioned it to our son's doctor and after treating him for the diagnosis from the first biopsy.( Which was done by another doctor at a different hospital). He was not safisfied that the treatment was working, (ACE inhibitors, hydrochlorothiazide, predisone) He also ordered some bone density tests becasue my son was in the lower percentile in height and weight for his age group. He is 24 and 5' 11", didn't grow until the summer of 9th grade. He ordered a new biopsy and with those results, the information we already had about our family, the article and talking to Dr. Scheinman it all came together. Dr. Flynn was a great doctor, he was pro active on treatments,our son felt comfortable with him and he was open to other avenues of thought.

That is really fascinating! Do you work and if you do, which kind of job do you do? Anything related to medicine?

I work for a local utility company repairing appliances and investigating natural gas leaks. I'm lucky, it's a great job. I could not do what you do, all that science and math and being cool under pressure. I can't even watch those first aid films at work. But I am glad other people can!

You seem to be pretty good at investigating!

LadaBL, You stated that your involvement in Dent Disease research is going to end July 11th. Is that because you have decided to move on or is their a rotation of sorts in these kinds of studies and someone will continue the role you thankfully have filled? Has the research come to any conclusion's? Do they plan to write an article about what they have found? Do you think that the key to keeping Dent Disease research going is the active participation of those who have the disease and the family members who are affected it? Do you have knowledge in how one goes about doing that? Can regular folk send in donations to those that are researching this disease? Does the placement of the defective gene on the chromosome have any bearing on the symptoms of the disease? Have they found out what negative effect the loss of protein through the urine has on the kidneys themselves, let alone the whole body? Can you name some citrate containing foods? I would like to stay connected to any study that is working for the treatment and cure of this disease. Could be through donations, time, research, or just communication with others. Thank-you for all you do!

Let me clear it for you. I had a position of young trainee on this project, which lasted for 2 years and it gave me some time off my work to focus on Dent. This time will stop and I will have more of the other responsibilities, but I will stay involved with Dent disease projects that we started at Mayo, just won't have as much time. The project is funded by NIH for another 3 years, which is good news. Our main goal is to form the Dent disease registry, which is collection of data on as many Dent patients as possible, to allow us to do analyze them and plan future research projects. We are also starting a project of screening un-diagnosed patients and setting up genetic testing which will be payed by those funds. We just got approval today for this project! I can tell you, I already have a great idea for another one! The reality is, as with your lives, we all have "other things to do" and they are improtant and pressing, and we have to juggle them all. Also, research requires money. The good news is, we have 3 more years. Maybe more, if we do well and the NIH/Government will have money. How can "regular folk" help? Somebody has to step up to organize DENT DISEASE PATIENT ADVOCACY GROUP which will take over on Dent-related activities once our project is finished. We will all try to keep involved but you, the families with Dent disease, are the best possible advocates for your children. I'm sure you understand that. OK, who volontiers????

I will. I would have to educate myself in how to go about it and what is involved, but I can do my part.

I would be willing to help as well. I think we need someone with some computer savvy as the best way to reach people is through the internet. Alas, I am not that person, but I would be willing to help in other ways.

This is great to know! I will contact the president of the Cystinuria Foundation to help us out!

I am willing to get involved and help organise as well. Caroline

I have been recently following this site closely. I am a advanced computer programmer (web developer with over 15 yrs of exp). I am eager to participate on any of these activities that would help our community. I started a website dentsfoundation.org several years back to educate and help our community.

To organize a PAG as a non-profit is a long journey, I am trying to educate myself on what steps need to be taken. I am still gathering information. There are about 15 steps. First we need a mission statement. That seems to be the easiest one of them all. I am willing to give it a try. I will report back as soon as I get a whole vision of what is required. Much to learn and many miles to travel.

That's great guys! I'm very excited. I think that the two of you could make it happen. It does sound pretty demanding but it will be worth it. When I have talked to Jaffa Rubinstein from the ORD "Office of Rare Diseases", she was surprised that Dent does not have a PAG. Sharon Terry from Genetic Alliance gave me information about the start up. She is very busy and travels non-stop, but was kind enough to answer to my email. Don't be shy to ask questions at their forum. Let me know if I can help with any advice, also. Lada