Hello this website is great isn't it? My son, age 9, has been diagnosed with DENT. i thought he would have Lowe's syndrome as this is what he was being tested for. My brother has Lowe's and my mum is the carrier. I recently got tested and it was positive. At the mo i am trying to make sense of all of this as it can be complicated. My son is attending Great Ormond Street too. It would be really great to speak you all soon. twinkle

Hi, Some patients with Dent disease have mutations on the gene that is also affected in Lowe syndrome. This variant of Dent disease is called Dent 2. We don't have enough knowledge on these disease and that's why we are forming a registry of Dent disease patients. Let me know if you are interested. Together we can make things move! Lada

HI LadaBL, I would be interested in joining the registry. We live in Australia. We havent had the genetic test to confirm the diagnosis but my son's clinical features seem fairly consistent with it and he has dandy walker variant so they think it maybe on the OCRL-1 gene. Cheers, Caroline

Caroline, That's great. I just noticed you posted this too. We have no physician contacts in Australia yet and the more information we get, the better. Please send me the contact information of your physician at my NYU email and I will contact him. We can then arrange with him to send the copy of your son's medical record or alternatively you could do it yourself. Looking forward to our communication! Lada

Caroline, I have found some more information for you on how to join the registry. If you would not like to go through your physician, you could mail or fax the medical record copy yourself. You would first have to read, sign and send back the consent form to share this information with us. I can email you the form if you send me your email to lada.bearalasic@nyumc.org. The medical records should include: blood results, renal imaging, and consult/physician notes that also include height and weight. Records from the diagnosis date is appreciated. Please let me know if you have any other questions or you can ask them directly to Barbara Seide. The records can be mailed to: Barb Seide | Study Coordinator | Mayo Clinic Hyperoxaluria Center | Nephrology Research | Phone: 507-293-4112 | 800-270-4637 | fax: 507-255-0770 | seide.barbara@mayo.edu | hyperoxaluriacenter@mayo.edu If anybody else is interested in participating in the registry, you can use the same information. Hope to hear more from the Dent community! Lada

Dear LadaBL, My son was diagnosed 14 years ago at age 13. He was previously misdiagnosed with medullary sponge kidney. At age 27, he is now being advised to go on the transplant list as a proactive measure. Can you tell me what he needs to do to join the registry? Thanks. Melly1624

Hi Melly1624, As the mother of a 24 year old with Dents, I'm curious about your 27 year old and why he's being advised to go on the transplant list. Is his creatinine high, is he on dialysis, or he showing other forms of kidney failure? I hope you don't mind sharing a little info. Thanks, Jeanne

Hi Jeanne, Don't mind sharing at all. Our doctor's goal is to never have our son on dialysis. With the wait for a kidney at 3-5 years, he thought it prudent to get on the waiting list at this time. Make sense? ~Melly1624

Hi again Melly, Not that this is any of my business but... I guess I would understand the thinking behind this if his creatinine is high, but if your son is otherwise healthy right now, I don't know. I can tell you that my father had Dents and he didn't go on dialysis until his late 30's. I have no idea when my son will have decreased kidney function, but I would weigh the risk of surgery vs his quality of life now vs being on transplant meds for the rest of his life. I'm going with my son to see his nephrologist in a few weeks. I might ask his opinion about this in regard to my son's health. Last year I asked about the different meds some kids on this list are on, but his doc didn't see the need for my son to be on them. I really appreciate your sharing this. Thanks.

Hi again Jeanne, My son has about 30% function left in both kidneys and is on meds. Right now, the major problem is controlling potassium levels. Does this help? ~Melly

Now this makes perfect sense. My son has 80-90%. I hope your son gets a donor quickly. Please stay in touch.

Will do! He looks and feels fine (other than fatigue), and has maintained function at 30% since he was 13. So who know what the future holds? Always hopeful... ~Melly

Dear Melly, Unfortunatelly, renal failure is a long term outcome for many patients with Dent disease. That's what makes it a serious disease. People don't feel sick if they don't have a lot of stones, until the kidneys fail. Patients that go directly to transplant before ever going to dialysis, do better. That's why your doctor recommended it. They would never transplant him too early. Patients with Dent disease do well with transplant. To join our registry, please send email to Barbara Seide at seide.barbara@mayo.edu. She will send you all the neccessary paperwork and will answer questions for you. You can also email me at LadaBL@yahoo.com and I can answer any specific questions or talk to you on the phone if that would help. Send my regards to your son and let him know that somebody is thinking about his disease and working on finding the answers! Lada

Lada, Thanks for the info. Will do and thank you so much! ~Melly

Twinkle, I noticed your post 2 years ago mentioned you were being seen at Great Ormond Street, my son Jake is being seen there as well. Would you be interested in us sharing our mutual experiences, If so pls e mail me on pscoop888@gmail.com. thks Paul

Bleujeanne, my son is 12 and apart from being diagnosed with Dent (CLC5) ,4 years ago shows no other symptoms. I have noticed over the years that he has low energy levels, currently we are ensuring he is drinking a lot of water each day. Our consultant is taking the wait and see approach, he is wary of prescribing diuretics unless absolutely necessary as he has experienced side effects in many patients. Like you and I am sure all off the contributors to this site, we are all keen to understand what the future holds in each of our individual cases and learn from eachothers experiences. I was very enthused to read that your son is 27, health seems ok, as you must have a lot of experience with this condition. I am told that puberty is quite key in understanding how rapidly symptoms can progress. I am keen to understand more about the citrus intake, I have noticed my son seems to have a predilection for apples, strawberrys, maybe this is natures instinctive way of trying to help with his condition! This site is only going to increase in importance for everyone with Dent in their lives. So pleased to have found it Paul

Good Morning, My son is now 24 years old and was found to have protein in his urine at 4. My father had end stage renal failure at 36 in 1972, he ran on dialsyis for 12 years at home. I am hoping we all can work to make Dent disease a treatable one and prolong kidney function. I think that this disease can be a little different every time someone in the family line gets it, my son seems to have what my dad did, protein in the urine with no other outward signs. Although, It would seem that the growth spurt for Dent males can be slower or late. My son has no cravings for any foods, other than a normal 24 year old male would, which is everything all the time. Other than protein in his urine he hasn't shown any other outward symptoms. Dent's may have some other physical traits we are not aware of or it just might be what is in each of our family lines. I do not think a study has been taken to determine that, but hopefully this website can help. His energy level has always been good, luckily, and he always had a appetite. I have noticed that my father, myself and my son all have strong fast growing fingernails. Sorry if my question sounds crazy, but it is something I have always wondered about, nails are made of protein and protein ( and lost thereof) seems to have alot to do with this disease. Have a good day.

The only problem my son had during puberty was with his ACE inhibitor. He was taking 20 mg daily of his ACE, and then during his senior year, when he was about 18 years old, he started sleeping for hours after getting home from school and he had absolutely no energy. It turns out the ACE was causing his kidneys to stress and his creatinine went up to 2.4 from 1.5. His doctor took him off the ACE and it went down. Then they put him on 2.5 mg and he's been at that dose ever since. My son is also in to strawberries, apples and blueberries, and he drinks a lot of water each day.

Thks epjfk, very imformative. I dont think your observation about the nails is crazy at all! Probably something in it. Have you enhanced your sons diet/vitamin intake with anything. I notice a lot of references to citric on this site. I live in London, where do you and your family live? Also I was just thinking that my daughters, whilst not having Dent could be carriers and could pass it on to their sons. Has anyone had their daughters genetically screened? Paul

Bleujeanne, can you explain to me what an ACE inhibitor is. I looked at it on the web but would like to understand it a bit more. Seems like a lot of people on this forum have mentioned ACE as a medication. How many years has your son been on it? Is there a history of Dent in your family. What sort of expectations and provisions are you making for the future, in the sense that is renal failure 100% probable in all Dent sufferers. I make myself more optimistic when I think that if this is the case I could always give my son one of my kidneys, if its a match and also in the future medical advances will probably allow synthetic creation of kidneys? Paul

pscoop, here's info on ACE inhibitors: http://en.wikipedia.org/wiki/ACE_inhibitor. My son takes enalapril, and I think he's been taking it since he was 12, and he's 25 now. I'm sorry that I don't remember exactly. His blood pressure is on the low side, and the high dose of the ACE was making it much too low at the time. My father had kidney disease, and after my son had genetic testing at age 13, it was confirmed that he had Dent's. I am the carrier. I've asked my son's nephrologist about my son's possible outcome and he said he does not know. My understanding is each patient is different. I'm in my low 50's and I'm keeping myself as healthy as possible so I can donate a kidney if needed. My father's kidney's started failing in his 30's and he died at 43, but that was in the 1960's and 70's and he never had any preemptive care. I am hopeful that my son will not follow the same path. Time will tell. About passing the gene on in families, one thing the nephrologist told us was not all daughters end up being carriers, and not all sons get Dent's. My father's brother has no kidney problems. I have a sister but I don't know if she's a carrier or not, and she has no children. Jeanne

I am a carrier and also in my early 50's. My dad started on the kidney machine in 1972, he was 36. My daughter has kidney stones, I have not had her tested but she is most likely a carrier. From what I've read a very small percentage of female carriers get some kidney problems. I believe carriers spill calcium, or show it in their urine. I think their is a 50/50 chance of offspring getting the mutant gene that causes this disease. My son is an only boy and so was my father. My dad had one sister and she was not a carrier. We live in the Great Lake State -Michigan. My son had the good fortune to get his check ups at University of Michigan every year from 7 to 18. They were very good to him. He took an ACE inhibitor for a time, when he was younger. Citrate is shown to slow down the disease in mice. I am hoping to found out how I can get my son to take some form of it. I think you need a prescription. I encourage him to drink OJ. I do not know at this time all the info on it. I too, am trying to stay healthy as possible. If you research your family history you will most likely find this disease has been in the family for a awhile. It can be hard to trace though, it can stay hidden, if no males appear for a long time. Some family members do not like to think it even exists at all. I lnow our sons, brothers and loved ones have better options then in the past, as back in the day our poor ancestors didn't know what was going on. Alot of new info has been found out about Dent's in the pass 10 years.