We are contemplating to do a patient meeting in NY in August during a Pediatric Nephrology Conference. One of the other rare stone disease patient groups will have their meeting. We will try to gather together Dent Disease specialists from all over the world and maybe can have one of them to speak to patients. Mayo nephrologists will also be there and it would be a unique opportunity for patients and parents to ask questions to physicians and to talk to each other. Would anybody be interested to attend? Let's keep our activity going. Stronger together! Thanks Lada

I am sorry to see nobody is interested in a meeting. I have been to a PKD (Polycystic Kidney Disease) Foundation meeting yesterday. They have managed to declare 03/11 a PKD Day in New York. Of course, their disease is much more common and more severe than Dent, but it also has a lot in common. They can have stones and end up with kidney failure just like Dent patients and there is no cure for the disease. It was inspiring to see people support each other and work on the common goal to find a treatment. I hope we will find a way...

Hello Lada. We are new members to this site. My son, Matthew was diagnosed with Dent's disease via genetic testing last week. He is 20 years old and we have always thought he had FSGS. I have a 48 year old brother with the disease also (although he has not been definitively tested). I would be very interested in attending the meeting in New York. We live very close to the city and would love to hear more about this disease now that we have this diagnosis. Have you found any more interest in getting a group together?

Hi Debduarte, You are actually the first one! Which does not mean other people will not join. If that does not happen, you could still come to the Primary Hyperoxaluria Workshop for Patients, Families & Friends, where you can meet and talk to all of us and meet parents and patients of another rare stone disease. We do hope that our Dent community will pick up. Check out the meeting site at: http://events.constantcontact.com/register/event?oeidk=a07e2vpw35we36db3dd Talk to you soon!

Hi LadaBL/Debbuarte, Please dont take the limited response as a lack of interest. My husband and I would have been keen to attend a meeting/workshop. I am sure many of the respondents would. Unfortunately, we live in Australia and looking at the range of posts across this community it appears that many members are from overseas (e.g. UK, Japan, Germany) or interstate thus it is a bit of a logistics challenge. If there are presentations of relevance someone could post a mpeg on a site for parents/patients to view and respond to. If interactive patient/parent group meetings are seen as a critical component of the research program it may be worth exploring one of the technologies/applications which reach across distance barriers (like internet chatrooms) and allow forums to interact live (such as Skype and webcams). Of course it requires both ends to have it in place. Just a thought. Cheers, Caroline.

I live on the West Coast and would be happy to participate via skyp but am unable to attend a meeting on the East Coast.

Hi, I am new to this site. I would be very interested to attend any Dents gathering and also participate in getting some sort of central database together that combines all knowledge on this condition in one place. Let me know how I can help. My son is under supervision at Great Ormond St Hospital in London and his consultant is one of the leading specialists in Dents, although to be fair he has only treated 8 or so families over the last 15 years or so, though he has explained to me that a number of years ago diagnosis was poor due to lack of genetic expertise. Paul

Unfortunately, that is the case with all rare diseases, one physician cannot see many patients, even if he was the expert (comparing to the other physicians). This where registry is important because we can collect information and in the future potentially DNA from patients all over the world which can definitely advance research on Dent. Thank you for understanding that. Barbara Seide *seide.barbara@mayo.edu* can forward you the information you need. You sign the consent and send us the copy of the chart. That’s all! Since patients are spread all over the US and the world, we were thinking of using the advantages of new technology and organize a virtual meeting. We can still organize a Dent Patient Support Group and create a website, although, I guess this community already serves that purpose. There are 32 PATIENTS in this community and we have 18 in our registry, most of them not included in this community. You can change this! Many regards, Lada

Hi Paul I'm in the UK and my 9 year old son was diagnosed in January. We are under Bristol Children's Hospital and my son;s consultant is contacting all her colleagues across the UK as she has limited experience too ... who is your consultant? Can we link up? I am collating all my son's info to send across to the registry - the more info they get the better for us all. Lada has already given me some info re growth and Dent's and as a result my son has been seen by an endocrinologist who is investigating further. Best wishes!

Hello, I would be most interested to attend any meeting. My father was from upstate New York, Syracuse to be exact. In fact, it was an article in a newspaper in that area that I first learned of Dent's. Dr. Scheinman was the doctor who was heading the research on kidney stones.

That's so interesting! Was your family the one Dr. Scheinman studied? That is what made him interested in this disease. He is certainly one of the Dent pioneers. I just visited him in Syracuse and made a list of all the physicians he had a contact with, hoping to reach the patients they treated. Unfortunatelly, lots of them lost touch with the patients as they grew up. Did you join our Dent registry based in Mayo clinic? Email Barb Seide *seide.barbara@mayo.edu* for info. Lada

Yes, I did sign up on the Mayo Clinic Dent registry. It is a good thing. The article I read was about the family he was studying at that time. It was not my extended family. I think that family was from around Watertown, New York. I saved the article, I just have to find it. Later on my father's aunt family line did have some participation in his kidney stone studies. He is a kind man.

Yes, he definitely is. Now he is a dean of Medical School and very busy with that work. In rare diseases, partnership between patients, families and physicians is so crucial. Patients and their advocates can do so much and are the most important and vital part of this partnership.

Hi kjsjd, not sure how to communicate one on one on this site, in response to your question my sons consultant is Dr Trompeter at Great Ormond St Hospital, I think he is the nephrologist with the most experience of Dents at this particular hospital. If you want to contact me direct to share experiences then e mail me on pscoop888@gmail.com. Lada, do you have any statistics on what age Dent sufferers have exhibited end stage renal failure and also how successful renal transplants are in these cases. Also in terms of medication, currently my son is on no medication, what symptoms/readings need to be exhibited before medication is prescribed. It doesnt seem as if there is any consensual form of treatment for Dent sufferers and there are side effects to most of the medication given (eg low potassium). Paul

Paul, There is no published data collection available that shows the average age of renal failure. Interesting point is that some of the grandfathers started dialysis at relatively younger age, maybe medications do help? Usually Dent patients are given thiazides to lower Ca in urine (if tolerated) and ACE inhibitors to lower protein in the urine. The impact on progression of kidney disease is unknown. You don't need symptoms for either. Certainly, if he had many kidney stones, that would prompt the use of thiazides. Goal of the registry is to try to answer these questions by collecting data on larger number of patients. Then we can try to make these conclusions. Otherwise, everybody has too few patients. Look, there are only 33 on this webiste. We have only 18 so far in our registry. From the whole world! But there are more patients. Physicians are overwhelmed with their own clinical work or would like to kep their own patients. Patients are reluctant to share their information and are overwhelmed with their own lives. Thing are moving, although slowly. For rare diseases, work is harder and is depending more on the patient and their families. They have to take an active role, that's the only way to move forward. Lada

Hi Lada. Just for your info., Dr. Scheinman also studied my family. We live in Calgary, western Canada. My son and myself were actually asked to give blood in 1996, which I understand was quickly shipped to Syracuse to be studied to help confirm they had isolated the Dent's gene. And my son's pediatric nephrologist, his doctor until last year, published a medical paper together with Dr. Scheinman and others in 1998. My son is Subject F. It is called "CLCN5 chloride-channel mutations in 6 new North American families with X-linked nephrolithiasis", Kidney International, Vol. 54 (1998), pages 698-705.

minu, My son's blood was also sent to Syracuse, but in 1998. Is there a way one can access Dr. Scheinman's paper? I'd love to read it. Lada, I have asked my son to be in contact with you, and I will keep asking. At least I know his nephrologist, from Children's Hospital in Boston, has. He sees a few Dent's patients and I think is a better resource.

Hi Jeanne. My family (father's side) is also from Boston area, but I would very much doubt we are related. My dad was hospitalized in the Veterans Administration Hospital in West Roxbury. Anyway, you could probably have access to the paper through the Mayo clinic, Lada, etc. But, if not, I would be glad to take a copy and mail it to you. I would not fax it as the letters are too small. Monica

Bluejeanne, I can email you the article. You can send me your email to ladabl@yahoo.com. I cannot get records directly through physicians, unless patients sign informed consent and the office copies and mails the record. It usually works better, if the patient (or parent) gets the record from the office and mails it, the offices are often overwhelmed with their own work. If you email me your son's address, I can have the research coordinator Barb Seide send him the package with consent and mailing address. Maybe that will prompt him to do it. Lada

Hi to all but especially Paul and kjsjd in the uk. i live in wales with my family, my husband and i have 7 children between us. we have all tested negative for dents following the diagnosis of dents on our son Oscar, about 6 years ago, hes now just comng up to 9. We have a consultant in Southampton where we used to live, hes brilliant. Hes called Pat Malone (urology surgeon) and the nephrologist is Dr Rodney Gilbert. We really cant praise them enough. Such a remarkable team that we are thinking of moving back just so we dont have to leave their care. we are currently awaiting test results to see if Oscar will need his right kidney removed due to infections and because of its very poor function. I would be interested in keeping in touch with anyone especially in the uk cos theres not many of us! thankfully.

jumartin, am sorry to hear about Oscars right kidney, hopefully the tests will be favourable. I live in London and my son is now 13, he was diagnosed about 5 years ago. We are under the care of Dr Trompeter at Grt Ormond St. There doesnt seem to be any coordination in the Uk of individuals with Dents, unlike the US. Happy to keep in touch. My e mail is pscoop888@gmail.com if you need to reach me.

Jumartin, I'm sorry for your son. Did you have a genetic diagnosis for him? You should not think of yourself isolated in UK. You are part of the Dent community around the world. There are so few of you, you have to stick together. I hope we will start the Dent patient advocacy group which will be for all, not only people in the US! Lada

Lada, any new updates about having a meeting in August of this year? I am still interested in making sure all of those with Dent Disease and their families are kept up to date with any news, by way of a newsletter or other means, after the grant research is over.Hope all is well.

Sorry for the delayed response. I was actually busy writing a review on 4 rare stone diseases (including Dent) which will be published sometime in September and finding a possible way to get additional funding for Dent research and work. 1. Please mark that the funding for Dent at Mayo clinic continues for another 3 years and I will still participate, although I won't have as much time. 2. The meeting in August in NY was last year. We are planning a web meeting with all interested (so far we had 11 people). We are currently working with Mayo Media Department who will give us technological support. Things move slowly because there is too much to do in too little time. You all know what it means! I will keep you updated. 3. I actually have an exciting idea for Dent research and will seek additional funding after we run some preliminary studies. It will require urine and blood specimens and chart copies to make sure pt's have the right diagnosis. I'll let you know when we are ready to start collecting data. Lada

Sounds great. Thank you.

Looking forward to your new idea and to any news that you/Mayo Clinic/coworkers are going to publish in September. Will there be a certain criteria to enter into any further studies on this disease? Is is possible for you to state the criteria needed now for a diagnosis of Dent? What do all Dent afflicted people have in common? Inwardly and outwardly. I know they say that this disease is rare but when you look at the people from all over the world, Japan, US, Canada, England to name the ones that come to mind, there must be many others in other countries who have this disease. Glad the funding continues for 3 more years. Good news indeed.

Indeed, Other countries have also reported cases of Dent disease, like Italy, Israel, Korea, Australia, Macedonia. We are trying to establish colaboration with all of them, it takes time but we are moving forward. Somebody has to keep pushing, that's the point. There are different clinical criteria to make diagnosis. Most frequently and almost always present is low molecular weight proteinuria (as you have noticed yourself),. Second most frequent is hypercalciuria, kidney stones and nephrocalcinosis (calcifications in the kidney). You can also have low potassium, phosphorus, leak of glucose and amino acids in the urine, low stature or growth delay, rickets. Definite confirmation is genetic test, however 20% of cases have unknown mutation, we still have to find it. Making diagnosis is still fairly complicated because it is not agreed, how many of these criteria you need. Usually it's 2 or 3, only one if you have family history or genetic diagnosis. Outword signs are really minimal, for some delayed growth or rickets, so Dent patients usually don't look different from anybody else. Criteria to officially enter registry is diagnosis of Dent disease. We are trying to help by making genetic diagnosis available for all. We are still pushing through forms and approvals, but we are almost there! Lada

I am not good with computers, but I wonder if a Facebook Page would link us with unknown cases in other countries. Also, is there a way to set up a webpage in the internet that when people google Dent's, X-linked kidney disease, or other key words, the link to this website would appear and they get information about your research and the Mayo clinic, this rareshare.org forum, etc. Right now if I google Dent's, I don't get anything about your research, Lada, or the Mayo Clinic. And in Facebook you only get a wikipedia definition of Dent's disease. Some people clicked they 'like' the page. I wonder if they are Dent's patients or family.

Yes Minu, I was one who "liked" Dent's on facebook...I look everywhere for info, to the point that I'm thinking of getting a t-shirt made that says "What do you know about Dent's Disease"...just to see what conversation it evokes. I personally know no one, other than my son afflicted with this, and had never even heard of it before now...so we need to get the word out. I'm a fundraiser & a volunteer coordinator in the health field...once his tests are back and we know for sure what we are dealing with...there will be no stopping me...nothing has ever motivated me like my children.

That is great Mamacassidy! I have 2 other women from this site who volunteered to start patient advocacy group. You should definitely join! I have asked my friend who is a president of Cystinuria advocacy group. He advised to start small, and gradually expand. My plan is to start with a patient advocacy group website. I am swamped with work until September, but we can start working on it then, hopefully, you'll have your result. I am one of the people who "liked" Dent on facebook. That's how Sissy found me and I told her about RareShare and Mayo Registry. Our Mayo facebook page is awaiting Mayo approval. We have written the content but did not put it up yet. I hope that we will reach more international patients with facebook, too. Mamacassidy, once you know he diagnosis, please sign up for the registry. We have 25 patients and there are 43 on RareShare, most of our patients are not from RareShare, meaning only about a 25% signed up. Only if we show that we are an active group, making progress, will we have a chance to get funds and move the knowledge forward. When you type Dent disease (correct) or Dent's disease RKSC on Google, our Rare Kidney Stone Consortium site is the second site on search. We also have the contact registry which I did not want to put up, not to confuse everybody, but I should. I'll open an extra discussion topic. Contact registry only contains names and contact information on patients or family members. In this way, when we have a clinical trial or we want to send to all of you, we have the contact info how to reach you individually. Lada

Lada, I've actually already contacted you through the registry back in March...just waiting for the official word. Cassidy and I will do anything we can to help this cause.

Thanks, I was suspecting this but wasn't sure, since I don't have your full identity. Thank you Lada

Hi Jumartin - I wasn;t logged onto this strand and am unsure how to contact individually - pscoop and I have been in touch and he has my email. My son James is also 9 - we live in Gloucestershire - where in Wales do you live? James's consultant is Dr Jan Dudley at Bristol Children's. She is great - a children's nephrologist - thankfully he hasn't needed a urologist yet. It would be good if we could get together. Hope Oscar is ok. James is fine - he's due to start growth hormone soon as he is small, but otherwise kidneys seem to be working ok at the moment. I;m not on facebook. Hope to hear from you soon.

just found this site. my son was diagnosed 2 years ago and is nearly seven now. any meet up that does occur in the future, I will be there. luckily I am a nurse and know about the medical gargin spoken to families with dent's. just found the fb page for mayo also. t

Great! Please consider joining our Dent disease registry based in Mayo clinic (if you haven't already). We will be happy to include you in our future activities. Lada

Hi LadaBL, I will send my sons reports to you to register. He is diagnosed with dents disease when he is two years. We have total reports and been closely monitored. we have visited Dr.Sheinman couple of years back. He is so nice. Currently our nephrologist at atlanta is treating him well. Thanks a lot for all your efforts to bring thing together. Are you planning on having a patient/doctors meeting any time soon? Thanks.

Hi, The time is so limited for me know and we have so many things to do. I will bring this up on our next meeting. Lada

Thanks Lada

I live in the UK. My brother who is 60 has Dents and is on his second transplant. My 3 children ( boy/girl twins of 20 and a 14yr old boy)all have the defective gene after testing by Raj Thakker. They have all been monitored by Dr Judd at Alder Hey- basically just weighed and measured until the youngest started on Potassium citrate last year. Otherwise very general dietary advice(low salt)The 20 year old boy has shown reduced kidney function from a GFR of 90 2 years ago to 46 this year. Rather depressing as he seems fine- tall and slim. I wish there was more to be done. He's devastated to be told he needs to make better lifestyle choices( no smoking or drinking) as he says he'll have no friends at Uni!

This must be hard on you, but I can tell you that we have quite a lot of families with Dent in our registry where more than 1 child is affected. Kids have 50% chance, which is pretty high. It's usually kids with Dent2 (OCRL1 mutation) who have shorter stature. Am I correct - for all of you who know their mutation? Your son will have friends, I'm sure, and preserve his other organs by healthier lifestyle (including the brain)! Lada

I forgot, Happy New Year to all! Let it be filled with progress! Lada

What I find hard to cope with is the seemingly catastrophic decline from very good results in relation to everything last year to such poor results in relation to kidney function (GFR) how has that happened? Is it(in my 20 year old sons case) the students smoking drinking lifestyle or is it just the relentless progress of Dents?he is currently at SFSU doing the third year of a 4 year degree at Swansea university- is there anything he can helpfully do while in the US?for my 14 year old is there any lessons to learn or will it make no difference and should he just have a good time?!

Although this mutant gene is suppose to be rare, it sure has the ability to beat the odds. I am sorry that any of your children have Dent's. But know that us Mom's and Dad's who also have a son with Dent's understand your frustrations. First you have to worry about your boys and their health and the possibility of losing their kidney function. Secondly, the weight and toll of the disease that those who have it carry, that knowledge at any age is heavy. The frustration of trying to help your child or children and not knowing exactly how. When they get a little older they tend to be their own person and do not always listen to others. But we can learn all about it and try to prevent it from progressing. I am trying, as I know you are to foucus on doing what I can to help. We have some time to get to the bottom of this defective gene and how it manifests itself in each person. You have a good question in what affects the progression of the disease in the kidney. Does it matter what you eat? or is the progression of the diseae pre determined when the DNA is coded to form the kidney? Does the scarring of the kidney promote more protein loss? Can we fool the body into filtering the kidneys the right way? In our extended family through the years some of the males loss the function of their kidneys in there mid-30's, one in his early 20's, some of them never loss the use of them, some had transplants. Nothing is for sure. I tell my son, who is 24, that nothing is pre deteremined and that people are working on his disease every day. He has options that those before him never did. It's hard though. Sorry to go on, forgive my spelling errors and remember we are with you!

epjfk, you said it all, and very well. Thank you. My father never had the medical care my son has had, and in the 1970's, when my father got sick, no one knew his kidney disease even had a name. Having the knowledge we have now, and knowing will more come in the future, is comforting to me.

I often wonder the same for my almost 20 year old son: all the constant bugging throughout his life about healthier diet and lower sodium intake to help preserve his kidneys, has it really made a difference? He is now down to 30% function, in his case it has been going down slowly throughout the years, but still feeling perfectly OK. Just like 54321, I am so happy he is having a great time socially in university, has travelled, etc. (although my son does not smoke and does not drink much, as far as I know!), as the future is a little uncertain.

Hi Lada re your comments re short stature - my son has dents 1 (clcn5 mutation, not OCRL1) and proven growth hormone deficiency. (he was tested for gh def. after you sent me the details of the article re dents and short stature). he has also recently been extremely unwell with acute budd-chiari - no cause found on all coagulation/genetic screening. we found out last week however that my other son's genetic testing is normal for dents - hooray!. my son with dents' urine calcium creatinine ratio since recent buddchiari is now beginning to rise, although creatinine in the 30s. he had a tipps and is doing well...

Thank you for reporting this, it is unusual. I am really glad he is doing well and that your other son is spared. I forgot if you were part of our registry, but we would have to collect information on all these unusual events that may be associated with Dent. I have not seen it reported. I will suggest that we include these kind of information. We will also start collecting information on growth hormone deficiency and therapy and link it to mutations. Have you registered with us? All the best Lada

Thanks, I'll talk to the Dent team to include this information in our registry because it is very important. Could you please let Barbara know when she will collect your yearly update this summer. Lada