Dent's Disease is a rare X-linked recessive inherited condition that affects the kidney and is one of the causes of Fanconi Syndrome.
Lada, is this different from the registry at Mayo? Deb Duarte
Dear Dent mothers, fathers and patients, We have worked hard to create the survey at RDCRN (Rare Disease Clinical Research Network - NIH sponsored). No good response yet - only about 10 patients finished. Link below, please consider!!! https://www.rarediseasesnetwork.org/cms/rksc/Get-Involved/Contact-Registry This is an easier, faster form of research and allows people from all over the world to do it. You will be asked to join contact registry and then do the survey. Good luck! Takes 10 min for moms and a little longer for patients - parents can do that one as well, even if kids are over 18! Please remember, the outcomes of this disease depend on your participation. It is a slow process, but if there is no process, there will be no outcome. My warmest regards, Lada
Ask them to do phosphorus, FGF 23 and 1,25 vitamin D. Good luck! Who is your nephrologist?
Hi Lada We are in the UK - I met you when you came to the RKD symposium 2 years ago. My son is on the Dents registry and we have filled out all the forms again recently for Barbra Seide... He is also now seeing a metabolic specialist, so if you let me know what tests you require, I can ask at our next appointment in October.
What is his serum phosphorus? If you are in the US, we could include him in phosphorus study and measure phosphorus related hormones which I believe are extremely important for growth but not routinely measured. Lada
Hi K - good to hear from you. Glad your son's kidney function is stable. FJ is doing ok, thanks. Been on dialysis for a year but we're hoping he will get a kidney transplant later this year, fingers crossed!
HI Val - not been on the site for a while. How is FJ doing? We met in London 2 years ago. My son is now 14 and has been on potassium citrate for several years now. His kidney function is stable and well maintained with no sign of stones as yet. Best wishes. K
Thanks you, Minu. That is very helpful and encouraging news. Sorry your husband has had problems too. FJ has always had stones, but fortunately they haven't caused him problems so far. Interestingly, he has never been prescribed or taken potassium citrate.
Do you have the results of this clinical trial yet? If so, should we increase phosporous in the diet and which foods are best?
Thanks. I appreciate your time. T
Great! Thanks for reaching out. I did not hear from the research coordinators but will ask. I'll email you. Lada
Is there going to be a conference this year? I haven't heard anything yet, and last year they started talking about it around march or april.
Hi all, I have response from Asdent, they are already in contact with Mayo Clínic, so I hope your collaboration will be great for both. Big hug
Thanks as always! Hope to see you in NY in October!
And again, Lada, if you need any translating or interpreting between Spanish and English please feel free to use me any time. Daniel should be somewhat able to help too.
My son Zander was dx with dents at 5 yrs. Now is 10.5 yrs. He is 4 ft tall my side.of family 8s short stature. His dad however.is 6ft 8 inch. We started endocrinology and the hand xray. Awaiting MD to get back to me from Stanford University. He had been seen at Stanford for 5 yrs now and luckily dr.potter there was able to dx him early and her him on chlorthalidone. (Sp) which he has been on since.but with varying dosages. He is also skinny. His wt is 56 lbs finally and that has taken 3 yrs to get there. As far as po4 he takes 750mg bid. Neutral phos. 2000 units.vit d just restarted that last 3.months. daily. 80 me kcl 30 20 30 dose during day to combat chlorthaladone k wasting. Avg. K level is 3.3-3.5. Lab about every 3 months. Also takes a milo ride to kick up his k levels. I have Zander in the study, or at least I returned the papers and hopes his data helps research. My concern is the obvious future kid. Failure, and transplant if and when it comes to that for him, but his overall fitting in. Being so short does not help in school. To make learning an issue he.was a.late talker 3 years old to make a 5 word sentence. Now he won't shut it. But he has adhd, and that lack of concentration and taking care of his disease in his future worries me. He is well aware of all his med and the rationale for their continued use and dose changes. It seems as if.from reading other posts the correlation of growth and learning is a factor is this disease process. Zander mom T
I have the hypothesis that possibly Dent and Lowe patients don't get enough phosphorus in their bone as they hit the potential growth spurt (because they lose some through their kidney). One way to prove that is to show that the major hormone that causes release of phosphorus in the urine is below normal in Dent. So far 3/4 adult Dent patients in my study have it. Now I want to see if children (in particular) children in puberty have that as well. Growth hormone also increases phosphorus absorption in the kidney, and it's possible that that is the way it works. We don't know which effect it has on the bone of Dent kids. Lada
I have three children, one with Dent's. Both of my two children without Dent's are tall...medium to extra large framed. My son with Dent's is thin, small framed, and definetly grew at a different rate. For a frame of reference, my 12 year old is 5'10 and 170 pounds. My 15 year old with Dent's is 5'6 and 110 pounds. My son also had sensory processing disorder.
No, restriction is advised only if oxalate is elevated. The elevation could also be a result of calcium restriction in diet. Calcium should not be restricted. If less calcium is eaten, more oxalate is absorbed. My view is that possibly Dent patients do not get enough phosphorus, that is why I am studying phsophate regulating hormones for Dent in my FGF Study for Dent disease. We will hopefully learn something from it. I have just looked up our registry data. Few patients have oxalates in 50-60 range. Not most common but possible. Lada
Do you recommend a low oxalate diet in Dent's even if the oxalate level is normal?
High oxalates are not common for Dent. However, sometimes even levels this high can come from dietary sources, but you could have him tested for primary hyperoxaluria. It is very important to minimize oxalate in diet. Did you review it with the nephrologist or a nutritionist? High doses of vitamin C can also give you high oxalate, make sure he is not getting that. We also have a center for primary hyperoxaluria if you would need genetic testing. Where did you get with this so far? Lada
Dear Jack, Sorry for the late reponse. We were terribly busy submitting all the required paperwork that would allow us further funding for Dent disease, which we have finally achieved. I am also personally very busy on my FGF Dent study, which is giving me some exciting preliminary results I will be able to share. Now we have 5 more years of funding and we plan to use it in the best way possible. There is a difference between the Contact registry and the Dent Disease Registry. Contact Registry only has the contact information, whereas the disease registry has the particular information about your disease - blood tests, urine tests, which are stored de-identified. Meaning by number and not your name.This information can later be used to draw some conclusions on disease progression, prognosis etc. Proudly, we started with 10 and now have 130 pts in our Dent Disease Registry. Did you get in contact with our coordinator Barbara Seide? Lada
Hi Jack. Welcome to the forum. Lada would be in a better position to answer your questions as I am no doctor. But as a mom of a 22 year old (asymptomatic like you) Dent patient that has known since he was 3 years old, I would say, yes, the severity and speed of loss of kidney function varies from one individual to another. And, unfortunately, like other kidney diseases, your kidney function in most cases keeps decreasing gradually throughout the years and you do not feel any symptoms until your kidney function is extremely low (in need of dialysis or transplant). My son has been taking a variety of meds since he was 3 (allopurinol, thiazide, fosinopril, potassium citrate and now crestor), but I do not necessarily think they have really helped in slowing down the disease. We will never know. I agree with your doctors and Jay, that probably the best thing is to eat healthy (low protein, low salt) and drink lots of water.
Hello, I am new to the Rareshare community and sort of new to Dent's. I have been aware of a Kidney problem since I was 11 (I'm now 27) when it was noticed in a standard medical test for a Visa that I had very high protein in my urine. Following this I had a series of further tests, and a biopsy and was finally told that I had "probable Dent's Disease" in my early teens. The expectation was that Genetic Testing would be performed but the University (in the UK where I am from) didn't have enough samples / money to go through with it. I have had a succession of Nephrologists since finishing with my Paediatrician, all of whom have given me different advice, pills, no pills, low oxylate low protein diets, no diets. Excluding a 1-1.5 year period where I took allopurinol, Amiloride, Bendroflumethiazide, and Ramipril I have taken no meds. The only proactive advice I received prior to the medications was to drink plenty of fluids and eat a diet that is not high in salt. I had always drunk lots and so this wasn't difficult. As such as a teenager / adult I have maintained a pretty constant intake of appx. 5-7litres per day. My latest Nephrologist recommended that I have the genetic testing done, as then it would confirm the appropriate direction for the Treatment. This came back positive and I have Dents Disease 1. This new outlook has spurred me to take a more proactive approach myself, so I have joined the Contact Registry etc (Lada please let me know as I think I m supposed to be joining more than one registry having read some of the posts on here). One of the main interesting things that I have noticed in reading the forums is that lots of people seem to be relatively asymptomatic (as am I) and I would be interested to know if this reveals anything in particular about the severity of the disease in each individual. Look forward to hearing from you all, J
I am happy to inform everyone that Dent Registry is started at Mayo clinic. We hop that we can gather more information and advance knowledge on the disease and therapy.
We are looking to enrol all patients with Dent all over the world. If you are interested, please check out our website. Please feel free to ask any questions.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
I am a nephrologist (kidney doctor) who works at NYU in New York City. National Institutes of Health has sponsored research of Dent disease starting Sept 2009 which includes, and starts with, forming Registry of Dent disease patients.
Dent disease manifests usually with low molecular weight proteinuria (loss of protein in the urine) and often with kidney stones or even calcifications of kidney. Significant number of patients develop kidney failure and need dialysis or transplantation.
Registry means collection of information on individual patients which is then stored, anonymously, in one database. That allows us to analyze collected information on large group of Dent patients, which has never been done before, because physicians typically take care of only few Dent patients (usually 1-5).
Our website is http://www.rarekidneystones.org/dent, where you can look up the available information.
Barb Seide| Study Coordinator | Mayo Clinic Hyperoxaluria Center | Nephrology Research | Phone: 507-293-4112 | 800-270-4637 | fax: 507-255-0770 | firstname.lastname@example.org | email@example.com.
I would be happy to answer any of your questions. My email is firstname.lastname@example.org or LadaBL@yahoo.com.
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