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
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 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.
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.
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
Glad to hear, Jay. So from now on you will no longer take allopurinol? Any concerns? Besides potassium citrate, that is the only med Daniel has been taking since he was diagnosed at the age of three.
As of my labs today, the numbers have now gone completely back to normal, so the allergist is pretty certain it was related to the allopurinol. As for the results, I think your correct in your assumption that this is not something the doctors normally test for. In my monthly labs they test for overall White Blood count, so when they saw it was elevated, they then checked to see what type of White Cell was elevated. I did not feel any symptoms, which made things even more confusing for the docs, as my numbers were through the roof. (Eosiniphil Count was 11,000 when normal range is 0 - 500).
Hi Jay. I hope you are doing well and that your levels are OK. I know Daniel takes similar meds to you, including allopurinol, I checked his lab history and I do not think he has ever had elevated eosiniphils, but, to be honest, I am wondering if they have ever checked them, as they are listed on the sheet but it is all blank. Or it says 0.0. Is it normal for the level to be zero? The doctor once took him off allopurinol when he was a teen, but I requested to put him back on it, because those two years Daniel's kidney functioned dropped more rapidly. Have you felt any symptoms/ill because of the high level of white blood cells?
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
Thanks! I'm really sorry I will not see you as well. I'm sure the meeting will be productive and rewarding. Until next year. Lada
Just read your post, Lada. So sorry to hear you will not be in Chicago; we were so much looking forward to seeing you again! But I obviously understand why; the decision was clear.
Hello, This is Cathy Forrest and I wanted to say I am sorry about the email issue. When I was contacted by you I sent myself an email on the website, it came back. So I did a little investigation and found some issues. Which I am glad to say, I corrected today. firstname.lastname@example.org and email@example.com
Has anyone been able to contact this website lately? I was on http://www.rarediseaseday.org/ today and it might be nice to share that info on the website in support?
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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