Hi - My 17-year-old son is currently being seen at Tufts Medical Center in Boston as he has had two bouts of kidney stones (one at 13 and one at 16) and after many ultrasounds, tests, etc., they determined he has a benign cyst in one kidney, a lot of calcium deposits in his kidneys, and spills some protein in his urine. He is on a med that is supposed to help with the calcium but hasn’t shown any great improvement yet. Other than the bouts with the stones, he is a strong and healthy guy. We are going back in 4 weeks after another 24-hr. urine and blood work and if it is still pointing to Dents, the doctor wants him to go for genetic testing for a more conclusive diagnosis. We just got all this information today. He seems unfazed as the doctor didn’t make too much of it without a firm diagnosis but I am. I’d like to be prepared with knowledge and questions when we go back in 4 weeks so if you are willing to share you knowledge, experience, etc., I’d appreciate it.

The best thing to do is to Google on "Dent Disease" and read whatever you can that comes from a university or medical school website. A lot of it will be just the abstract of some heavy duty medical research paper, but with a little persistence you should be able to collect a fair amount of knowledge. There are a couple of different varieties of Dents some kids seem to have lots of stones, others not so much. There are also two different gene loci, with quite different symptoms. It sounds like you have the ClC-5 gene symptoms, since the other gene is associated with Lowe's Syndrome, and includes some mental and behavioral problems, and it sounds like you don't have that. The important questions are, What experience does this doctor have with this disease, what treatments does he recommend, and what are the side effects; and what's the long term prognosis. Have you had a biopsy, I mean, has your son had one? Sometimes, important information can come from that, too. You might ask about that.

Well, here it is Feb. 2010 and, after genetic testing, my son officially has Dent's disease. I am not sure if we know which "varieyt" of the disease; we are scheduled to go back to Boston in 3 weeks to meet in person. Other than this news, my son is very healthy and has had no recurrance of stones, etc. He still takes 12.5 mg. of hydrochlorathorized/day (well, almost every day!) as he has for about 2 years now, and the doctor did note that his calcium levels had dropped which was a good sign. And, that low level of medication doesn't bother him at all. I enjoy reading what others are going through and trying. I am a bit nervous that there is no known course of action and wonder what the future holds for him. Hopefully we can institiute some pro-active nutrition changes that will keep things at bay until research catches up with us.

Hi, I would like to encourage you all to look at our website http://www.rarekidneystones.org/dent. We are trying to put together information on Dent disease and we would appreciate your input from the patient's (or patient's advocate) side. What are we missing that you would like to now? And, unfortunatelly, since there are really not many patients (we don't even know how many) with Dent disease, you are the only ones who can move the research forward. We will never be able to understand more before we gather all the information together and put all the Dent experts together to try to figure it out. To thiazides really help? Does citrate help? Does something else help? Medications have side effects and if they are not working, then we should not be taking them, but who will know if we don't study it in a systematic, scientific way. Lada

Hi, LadaBL - My husband and I found your rarekidneystones profile for patients and practioners (he's a doctor) to be very useful and will take it to hospital next time I have to give our complex medical history to medical staff (which is quite often). My son was born prematurely at 29 weeks due to extreme intrauterine growth restriction. He's now 3 yrs old. He's a beautiful happy boy, full of mischief. Last year they started investigating a water fetish he has had since he was 6 months old and isolated it to a kidney condition. Dents disease is the likely prognosis but we havent had the genetic testing to confirm it as the treatment would be the same regardless. His clinical features include polyuria (pees a lot), polydipsia (drinks a lot), hypercalciuria (calcium in his urine), nephrocalcinosis (calcium deposits on the kidney), extreme growth restriction (in less than 1% for weight and height), proteinuria (protein in urine), and mild aminoaciduria (amino acids in urine I guess). In Oct 2009 he had blood in his urine and seemed to be suffering pain as if he was passing a kidney stone. The doctors thought he was too young until I found a calcium oxolate stone in his nappy. He was prescribed Hydrochlorothiazide 6.25Mg twice daily to decrease the urine calcium. We were told there were no side effects and that the drug is commonly used to treat paedatric kidney patients. He doesnt seem well whilst on the drug - drawn and pale and highly strung with chronic constipation. He had 2 near fainting spells after physical exertion within the first 2 weeks which the doctors at the time didnt believe was related to the drug. The drug puts his body into a constant mild state of dehydration. In December the dose was doubled and within 5 days he was in hospital with what we first thought was gastro but turned out to be hypokaelemia? (very low potassium levels) as a result of thiazide. Looking at medline article abstracts now suggests this is not an uncommon side effect. The emergency dept medical team googled Dents disease and read wikipedia to learn about it. Ultrasounds show more stones forming. He has been back on thiazide for 5 days and blood tests show it is affecting his potassium levels once again so we now using a potassium citrate liquid as well. There are thiazide tablets with potassium built in apparently but I chose the liquid because it is reputed to help reduce existing kidney stones in addition to reducing the urine calcium levels. I am trying to keep his diet low in sodium, high in potassium, high in fruits and vegetables (but avoiding those containing oxolates which is harder than you think), introduce orange juice. He's a very fussy eater so its really difficult. I have also started researching on medical studies and nutritional information to see what has been learned to date and which institutions are at the forefront of the research. Im looking into the effects of magnesium, B6 and vitamin E which are all beneficial for 'stone formers'. The rarekidneystones website lead me here. It is comforting to hear of boys in their teens in good health. I look forward to learning more and chatting with you all. Cheers, Caroline.

Caroline, I am sorry you have to go through all that, being a parent can be very hard, I've had my share. Dent is tough because we don't have enough information on what really works. I have definitelly heard that patients (especially young) have had problems with thiazide like hypokalemia and dehydration to the point that they need to be taken off that therapy. You are doing well with the diet. Your big effort should be adequate hydration as he is forming stones. I know that must be hard with a 3 year old. We are setting up another website at RDCRN supported by NIH and University of South Florida which will have answers to frequently asked questions. I'll let you know when this is ready. We are working intensively on establishing collaboration with nephrologists in Europe and Israel (and planing to expand to Asia) to gather more information on Dent disease. We all believe the future is getting specific information on disease presentation and genotyping to be able to decide on what really works and what can be investigated as potential therapy. Your son is very young and if we do well, he could benefit from it. We have money in our grant to support genetic testing if you have any problems with your insurance, I think you should go for it. You can email me at Lada.BearaLasic@nyumc.org. I would be interested to contact your physician regarding our registry and our efforts. This could be a place for him to find out about experiences of the experts and to join in on updates. Please think about joining the registry. I know it sounds scary but it is confidential and your son's information would be protected. The good news is, we are making efforts and moving forward in understanding the disease and that will, hopefully, lead us to better treatment. Thank you for your letter Lada

Hi Lada and everyone. I am a new member and mother to an almost 19 year old young man affected with Dent's disease. My father and an uncle died of it but we did not know it was hereditary until my son was diagnosed at the age of three. Anyway, I can truly relate to all the other parents. My son has now started college, away from home, and I do wonder if he's taking his meds, eating well, etc., and if his kidney function will become worse more rapidly now that he is on his own. Last summer (2010) , when he was last tested, his kidney function was down to about 35%. Questions about meds and diet, Lada. He takes 4 different meds (hydrochl, potassium citrate, ACE, and allo or novopurinol). He took growth hormone for 6 years (age 12 to 18) and it must have worked, because he is now the tallest in our family, at 5 ft, 8 in. 1. I have always tried to make him follow a slightly lower sodium diet than other boys. I read long ago, and told my doctor who agreed, that the HCL did not work if you did not restrict salt in the diet. Is this true? Does someone with Dent's disease have to be on a lower salt diet? Now that he is in a university dorm I am sure his salt intake is much higher than if he was still at home. 2. My son also has higher than normal uric acid levels. That is why he takes the novopurinol since he is 3. But about 3 years ago his nephrologist took this med away saying it was not necessary, that the doctor in the other city was mistaken to say he needed novopurinol for uric acid. But, probably just by chance, that year he did not take the novopurinol his kidney function went down much faster. So I requested his nephrologist if he could still take it. So he is back on it. Do you think the doctor is right that he really doesn't need to take novopurinol? His urate level is at 420. Does anybody else take novopurinol? 3. And I read some patients take Vitamin D. My son has never been asked to take Vit. D even though we live in Canada where you spend most of the winter indoors. In fact, I remember asking the doctor a while ago and he said not to give any Vit. D supplements because he might not metabolize it because of his condition (?). Thanks.

Hi Minu, 1. Low sodium diet is recommended for any patient with calcium stones, because it lowers the amount of calcium in the urine. The potential problems are low blood pressure and low salt level, if thiazdies also taken, but if that does not happen, it is recommended. 2.Usually Dent patients tend to have low uric acid.His urate level of 420 is on novopurinol or off? It would be important to know the level before the medication. 420 before treatment is not high and does not require medications unless patient has gout. In general, in kidney failure patient it is expected to have elevated uric acid and treatment is controversial, Some people believe it should be treated and some don't. There is no clear proof of either. 3.Dent patients tend to have eleveted levels of activated vitamin D. Vitamin D usually used for supplementation is not the active form and it probably does have some effects independently of the active form. Giving it to the Dent patient or any patient with elevated calcium in the urine can potentially increase calcium , so it has to be closely monitored. Again, effect is unclear. You should join the Dent registry if you have not so far. You can make a difference. This is the only way to move forward in knowledge on Dent for your children and their children and their children... We can look into all this information in scientific way. Email me at: ladabl@yahoo.com or lada.bearalasic@nyumc.org with your address and we will send you the information you need. The only requirement is signed consent and a copy of a chart. That's all. All the information is kept anonymously.

This is South Korea. I have a 12 years old son. He is diagnosed with dent's when he is 8 years old. When he is 7 years old, I find some problem his urine test in a kindergarten(protien =>1+) From 8 years old to now, his test results are similar. 1. Urine stick test(protien) => ± ～ + 2. Protien creatine ratio => 0.5 ～ 0.9 3. calcium creatine ratio => nomal 4. 24hour urine test(protien) => 270mg, ～ 500mg ( diagnosis time 750mg) - glomerular filtration rate => nomal - loss of calcium => nomal 5. Blood creatine => nomal(0.6 ～ 0.7) 6. Last week test result - 24hour urine test(protien) => 314mg - Except protien, Kidney Functions are nomal (no stone, no hypercalciuria, no calcifications.) His symptom is only protien untill now (mostly low molecular weight proteinuria /B2) He is taking ACE inhibitor from diagnosis time And frequently eating apple, strawberry, lemonaid. Because I believe this fruits are full of citrate I really want to protect my son's kidney. He is follow a strict a diet[dietary] cure. In my house, We do not use salt(sodium) to any food. Because I believe salt(sodium) are hamful to kidney.

Hi, It is really great to see how mild is his disease. He has been on ACE inhibitor and diet from the start. It is important to note he had no hypercalciuria at any point. It is likely that the mutation causing his disease is milder or that he has some modifying genes (different genes changing the disease). Not every Dent disease is the same. Not even in the same family. That's something we want to find out which will be important for treatment of the disease. I'm not saying that what you are doing is not important. It is. We have to find out. Join the Dent disease registry to help all with Dent disease. Lada

Hi, I am Paul from London, my 12 year old son was diagnosed with CIC-5 Dents disease 5 years ago after a routine urine test found excessive protein spillage(2+). I am absolutely amazed by this web site and am so pleased to find it. I have so many questions and want to learn so much more. Can you recommend the best places to go to learn more? I have many questions such as who is the leading authority on dents disease in the world and where are other specialists based and practising? Currently my son has been advised to drink 2 litres of water a day, apart from that he is on no medication and shows no other signs of the disease. Where can i learn about probable prognosis for my son, ie what age will it exhibit, how will it affect his life and what are the statistics from other dents patients, how mnay dents patients by country are there? so many questions, all help much appreciated. Paul

Paul, You do have many questions, indeed! 1. You can go to our website to find more about Dent disease: http://www.rarekidneystones.org/dent 2. There is not one expert in the world who is the lead authority, since the disease is so rare and scattered. There are several experts and centers in the world with the similar knowledge. Mayo clinic (Dr. John Lieske and me), Steven Scheinman, Larry Copelowitch in the US, Rajesh V Thakker in UK, Arend Bökenkamp in Netherlands, Franca Anglani in Italy etc. Registry can be that step forward Dent disease needs. 3. We don't know the real numbers, again the registry would help in that. In the US, Dr. Scheinman managed to get 30 patients for the study of the effect of thiazides on calcium in the urine. About half were Dent1 and half Dent 2. Lada

Hello, All! I am so glad to see this website and discussion, I have waited over 20 years for something like this. It is good to see others working toward slowing down and/or preventing this disease from progressing. I am from Michigan and my son was found to have protein in his urine at his pre-kindergarten-(4 years old) check-up. He is now 24, he has had two kidney biopsies, taken ACE inhibitors and hydrochlorothiazide when he was young. The hydrochlorothiazide made him uncomfortable-low potassium. so we took him off of it and the low blood pressure meds he stopped taking them about 4 years ago. He has high normal blood pressure. He was the second smallest student in his 8th grade class of approx.130, but he is now 5' 10, which is average for our family. In my direct family line the males do not have stones. My father had end stage renal failure at age 36. Never had high blood pressure and also was a late bloomer. We have many male members on my fathers maternal line who have had kidney problems, stones, transplants. My hope is that somehow the disease can be slowed, citrate tablets? or stopped. I am so excited to have a forum like this so everyone can gain from each other. I don't know if anyone can answer these questions, but ..Is Dent's Disease a condition that one gets in a family line by chance? Do they know what caused the mutation in the first place? If some of those who have Dent's have stones and some do not, can they determine what makes it that way, leading to the prevention of stone formation? Can anyone tell me if taking citrate pills can really slow the progression of this disease and what are the side effects? Why do those with Dent's not have the common symptoms of kidney disease? Sorry, for the long run, but I am so glad to see progress toward the treatment of this disease and hope for anyone with kidney issues. Thank-You! ..epjfk

Dear epjfk, Mutations happen initially by chance and then they can be passed to the next generation or not. Sometimes they are protective for something else and tend to stay in the population. There is no known cause for Dent mutations. There are 2 main genes that are found to have mutations. CLCN5 for Dent1 and OCRL1 for Dent2, but there are many different types of mutations of those genes. Dent can look differently even within the same family. Some have large stones, some don't at all. Why? Great question. No answer. Yet. We are collecting information on all patients in th DENT REGISTRY to try find that out. Then, all scientists around the world who study Dent can ask for this information and have bases for scientific studies to try figure this disease out. Patients with Dent do eventually develop symptoms of kidney disease if they develop kidney failure (possibly your father did). Did he have diagnosis of Dent disease? JOIN THE REGISTRY! Protect future generations. Lada

No, my father did not have a diagnosis of Dent Disease. He was told at age 19-exam upon entering the service in 1954 that his kidneys would eventually fail. They did in 1972, he was on the kidney machine for 12 years. He passed in 1984. He never had a biopsy. He thought maybe he developed kidney disease from strep throat as a young man. Although hehad heard rumors of men in his family having kidney disorders and had his children tested-I am one of them. We showed no sign of kidney problems. It was only after my son was found to have protein in his urine that started my investigation into the family history of this disease. My father was an only son and so is my son. My son had a biopsy around 5 (inconclusive and was treated with steroids for a time but they did not help) and another one in his teens. My son also went to U of M in Ann Arbor every year from the time he was apprx. 7 or 8 up until he was 18. He went to the pediatric nephrology outpatient clinic for check ups on his kidney's. His doctor, Dr. Flynn, after the second biopsy got in contact with Dr. Scheinman and went over what are called markers for Dent's. My son had them, although my son could not be in Dr. Scheinman's official study as he was working on kidney stones and my son didn't have them. After my son turned 18 we set him up with a kidney doctor and he told us about the genetic testing, to make it official. We did not do it at that time. My paternal grandmother had numerous siblings, it is that line of our extended family that Dr.Scheinman has been made aware. It is my understanding that he had included one or two in his studies. I have all the paperwork from the U of Michigan visits over the years and the biopsies. I have my extended family tree showing the males affected by this disease. I have talked to my son and he would definitely volunteer for genetic testing. If I can help in any way let me know, I think that everyone on this website can communicate and come up with some solutions or some guidance in making Dent's a treatable disease without end stage renal failure. At least that is my hope. I do know alot of people are working on it and I know I speak for everyone in saying Thank-you. P.S. Is the proper name Dent Disease or Dent's Disease?

HI epjfk, I have a similar story to yours. I have a 25 year old son with Dent's. We found out he had kidney problems when he was 9 months old, but he wasn't diagnosed with Dent's until 13, when he had genetic testing. That's when we found out that my father's kidney disease was also Dent's and not from Strep as our family was also told. I don't have all of the info about my father's story because my parents split up and info is spotty, but I do know he was on dialysis for a very long time, and had a transplant in 1975 at age 43 and died shortly thereafter. My father has a brother who does not have kidney disease. I'm a carrier. My son is currently doing very well. His semi annual creatinine tests are usually in the 1.7-1.9 range, and he takes a very small does of an ACE inhibitor and also something to make his urine acidic. I apologize that i'm blanking on what the name is at the moment. - Jeanne

Glad to hear your son is doing good. My son is currently not taking any meds. I am still working on that. Your situation is very similiar to mine. You found out your boy had kidney issues at 9 months, wow, do you have the records for that? Maybe that info can be utilized, what the kidney is doing or not doing at that young of age, might help in determining preventive maintance on the kidneys. My father's uncle, his mom's only living brother, passed at 36 in the 1930's, his had one son and one daughter, both of her sons have had kidney problems, I do believe one has had a transplant. Do you think it just gets in a family by chance and never leaves? I know various degrees of dent's shows up all over the place. England, Japan, US . I naively thought I could find out when the disease showed up in our family. Thinking somehow the gene mutated just in out line, but now I see that it is like any other mutanted gene. You get what you get, I wonder why it is so rare.?Those of us on this web site seems to have witness similiar traits that the disease shows. Mainly protein in the urine, and slow deteriation of kidney function. Slow growth in males. It is like the body made the kidney to work for so long and then stop. You know my father would not take a kidney from any of his children, and because he chose not too, I still have two. A gift that is priceless. Does your boy take any citrate?

My son does take a citrate in addition to the ACE. He didn't grow slowly as far as I could tell, and at 25, he's 5' 8" which is a fine adult male size. I don't know much about Dent's in general except the little there is to read or that our nephologist has told us. He also has all of my son's records from 9 months on, and has been in touch with Lada, who is organizing research. Giving my father a kidney wasn't an option when he needed it because I was 18. If my son needs one, I'll donate no questions asked.

Same here, no doubt about it. I just hope I am a match. When did your son start taking citrate? Did he get it through his doctor? Do you know if taking citrate has made a difference in his protein loss? My boy is 5' 10 size 10 shoe. My dad was around 5' 10 size 10 shoe too. I wonder if their is a average height for those who have this gene, does anyone know an male who has this trait who is at least 6 feet tall or more?

I don't remember when my son started taking the citrate but I do remember it being at least before he was 12. If your son isn't taking it, he could add lemon to his water and that would help. My understanding from a urologist we saw was that the acid helps with keeping stones from forming, not with the protein. If I'm incorrect, maybe Lada can help explain. In terms of height, my father was 6'4". I fully expected my son to be almost as tall but I'm 5'4" and my husband is 5'11, so my son being 5'8" isn't really surprising.

Bleujeanne/epjfk the dialogue here is so helpful. I feel too that I hope I am a match for my son and would donate in a heart beat if he needed it. I am trying to increase my understanding of the medical results my son has had every 6 months since he was 7 (he is 13 shortly). Bleujeanne, when you refer to the creatinine figure of 1.7-1.9 can you specify exactly what measure this is, is it a ratio, what units is it measured in, I have various creatinine ratios from my sons tests and they have remained fairly static over the last 5 years. Last night I put them all into a spreadsheet to be able to monitor the trend in the coming years. Lada perhaps this could be a useful part of the potential web conference you are thinking of organising, running through what results you look at and how this can help explain kidney function. I am keen to explore the citrate route and also learn what conditions the nephrologists prescribe ACE in. Paul

That is a good suggestion Paul for the web conference. Cr 1.7-1.9 is in mg/dl, that is a unit for creatinine in the US. You have different units and have to convert that. Lada