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Dent's Disease

What is Dent's Disease?

Dent's Disease is a rare X-linked recessive inherited condition that affects the kidney and is one of the causes of Fanconi Syndrome.

 

Dent's Disease is a rare X-linked recessive inherited condition that affects the kidney and is one of the causes of Fanconi Syndrome.
Prevalence Information of Dent's Disease has not been added yet.
Synonyms for Dent's Disease has not been added yet.
Cause of Dent's Disease has not been added yet.
Symptoms for Dent's Disease has not been added yet.
Diagnosis of Dent's Disease has not been added yet.
Diagnostic tests of Dent's Disease has not been added yet
Treatments of Dent's Disease has not been added yet.
Prognosis of Dent's Disease has not been added yet.
Tips or Suggestions of Dent's Disease has not been added yet.
References of Dent's Disease has not been added yet.
RDCRN Survey Created by LadaBL
Last updated 29 Sep 2016, 11:45 AM

Posted by debduarte
29 Sep 2016, 11:45 AM

Lada, is this different from the registry at Mayo? Deb Duarte

Posted by LadaBL
28 Sep 2016, 04:25 PM

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

Various Symptoms of Dents Created by emilysorenson
Last updated 28 Sep 2016, 10:14 PM

Posted by LadaBL
28 Sep 2016, 10:14 PM

Ask them to do phosphorus, FGF 23 and 1,25 vitamin D. Good luck! Who is your nephrologist?

Posted by kjsjd
28 Sep 2016, 09:36 PM

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.

Posted by LadaBL
28 Sep 2016, 08:34 PM

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

View Full Thread (9 more posts)
Recurrent stones, post transplant Created by valgraham
Last updated 17 Jun 2016, 09:03 PM

Posted by valgraham
17 Jun 2016, 09:03 PM

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!

Posted by kjsjd
6 Jun 2016, 04:06 PM

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

Posted by valgraham
16 Nov 2015, 10:02 PM

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.

View Full Thread (5 more posts)
1st Dent clinical trial by Mayo Clinic Created by LadaBL
Last updated 14 Jun 2016, 06:37 PM

Posted by Dixie5346
14 Jun 2016, 06:37 PM

Do you have the results of this clinical trial yet? If so, should we increase phosporous in the diet and which foods are best?

Posted by tieshiea
9 Apr 2015, 03:36 AM

Thanks. I appreciate your time. T

Posted by LadaBL
9 Apr 2015, 02:30 AM

Great! Thanks for reaching out. I did not hear from the research coordinators but will ask. I'll email you. Lada

View Full Thread (3 more posts)
Dent's Conference 2016 Created by CaraM120
Last updated 6 Jun 2016, 03:43 PM

Posted by CaraM120
6 Jun 2016, 03:43 PM

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.

Dent's conference 2015 Created by CaraM120
Last updated 12 Oct 2015, 02:06 PM

Posted by LadaBL
12 Oct 2015, 02:06 PM

I'm glad it worked! How was it? Lada

Posted by minu
11 Oct 2015, 01:37 PM

Worked when you started talking, Lada! Hope to see Jay's talk in video later. Thanks so much!

Posted by LadaBL
10 Oct 2015, 03:35 PM

Is it working now?

View Full Thread (2 more posts)
Dent Asociation Created by EvaK
Last updated 12 Apr 2015, 02:17 PM

Posted by EvaK
12 Apr 2015, 02:17 PM

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

Posted by LadaBL
9 Apr 2015, 02:33 AM

Thanks as always! Hope to see you in NY in October!

Posted by minu
7 Apr 2015, 04:17 AM

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.

View Full Thread (11 more posts)
Growth Created by Vicky_p
Last updated 8 Apr 2015, 06:27 AM

Posted by tieshiea
8 Apr 2015, 06:27 AM

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

Posted by LadaBL
22 Jan 2015, 01:37 PM

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

Posted by hamilt1
21 Jan 2015, 11:59 PM

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.

View Full Thread (15 more posts)
oxalates Created by emilysorenson
Last updated 21 Jan 2015, 10:30 PM

Posted by LadaBL
21 Jan 2015, 10:30 PM

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

Posted by hamilt1
21 Jan 2015, 09:52 PM

Do you recommend a low oxalate diet in Dent's even if the oxalate level is normal?

Posted by LadaBL
21 Jan 2015, 09:39 PM

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

View Full Thread (1 more posts)
New to Dent's Created by IsaacsMom
Last updated 21 Jan 2015, 09:58 PM

Posted by LadaBL
21 Jan 2015, 09:58 PM

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

Posted by minu
23 Apr 2014, 04:58 PM

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.

Posted by Jack1
23 Apr 2014, 03:11 PM

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

View Full Thread (17 more posts)
Community Resources
Title Description Date Link
Dent Registry

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.

 

 

Lada

03/20/2017

Clinical Trials


Cords registry

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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

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.

Community Leaders

LadaBL

Hi,

 

 

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.

 

 

Contact:

 

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.

 

 

I would be happy to answer any of your questions. My email is lada.bearalasic@nyumc.org or LadaBL@yahoo.com.

 

 

Several people from this site have contacted us. Congratulations for making the initiative and moving the knowledge forward!

 

 

 

Stay strong!

 

 

Lada

 

 

 

Expert Questions

Ask a question

54321 Message
22 Jan 2014, 08:46 PM

Hi Lada

 

My son Dan ( now 22)has now graduated University and his next move is to Israel where he intends to live for a while. 'Just in case' he has a problem like he had while in the US do you know of any experts/ clinics there he can make contact with to make sure he has regular check ups. After the rather disastrous fall in kidney function while in the US after self medicating his tonsillitis with Ibuprofen his function has stabilised at 44% and he is otherwise in very good health.

 

Debbie Birrell (UK)

Answer

Hi Debbie,

 

 

I have contacted Dr Yaacov Frishberg who is a Dent expert. Although he is a pediatrician, he said he would be happy to see your son.

 

 

Below is his contact information.

 

 

Best of luck!

 

 

Lada

 

 

 

Prof Yaacov Frishberg, MD

 

 

Director, Division of Pediatric Nephrology

 

 

Shaare Zedek Medical Center

 

 

P.O.Box 3235

 

 

Jerusalem 91031

 

 

ISRAEL

 

 

Tel: 972 2 6666144

 

 

Fax: 972 2 6555484

 

 

CaraM120 Message
13 Jun 2013, 02:13 PM

My son was recently diagnosed with Dents, and was put on enalapril and the medicine has had no effect on him. His pediatric nephrologist, this is the first case of Dents he has actually seen, so he does not know how to treat this. I see other pts on the site, and they are on several different types of medications to control their symptoms, and I don't want him to be overlooked and more damage to be done by not being treated. I just don't know what our next step should be, and his nephrologist is just watching him and bringing him back every two months for blood work and urine check. I feel like maybe there is more that they should be doing for him.

Answer

Hi,

 

 

How old is your son?

 

Do you live anywhere near New York, Philadelphia or could you come to Mayo clinic?

 

 

In general, not many medications have been tested on Dent patients.

 

 

Thiazide diuretics have been shown to decrease urinary clacium, however they are often poorly tolerated in Dent patients, in particular children causing low blood pressure and dehydration as well as low potassium.

 

Citrates have been shown to decrease progression of kidney disease in rats (gene defect similar to Dent) and many patients take them or increase citrate in their diet (lemonade, orange juice).

 

 

We are currently doing a study evaluating role of phosphate supplements in Dent patients to lower urine calcium in safer way than thaizide diuretics, but they have to be older then 18 years old to get phosphate supplements.

 

 

For the younger patients, we will do all measurements of hormones important for the calcium and phosphorus metabolism, without giving phosphorus. You could do that remotely (not in any of our centers), if you bring 24h urine and get blood drawn in the local lab. This could help understand what is happening with your son better since we are doing tests not routinely done in private offices.

 

Let me know if you are interested.

 

 

Did you join our registry? You could contact us at rarekidneystones@mayo.edu| rarekidneystones.org.

 

 

We are also having a patient meeting in Chicago in June this year, meeting other parents and patients could be useful.

 

 

Many regards,

 

 

Lada

 

 

CaraM120 Message
10 May 2013, 04:17 PM

So happy to have stumbled upon this site. My seven year old son was just diagnosed with Dent's and this is the first case his nephrologist has ever seen. We are just trying to figure out how to go forward and the best possible treatment for him. Any advice would be great. Thanks!

Answer

Hi,

 

 

I think I have just answered you. Just in case, to repeat:

 

 

Do you live anywhere near New York, Philadelphia or could you come to Mayo clinic?

 

 

In general, not many medications have been tested on Dent patients.

 

 

Thiazide diuretics have been shown to decrease urinary clacium, however they are often poorly tolerated in Dent patients, in particular children causing low blood pressure and dehydration as well as low potassium.

 

Citrates have been shown to decrease progression of kidney disease in rats (gene defect similar to Dent) and many patients take them or increase citrate in their diet (lemonade, orange juice).

 

 

We are currently doing a study evaluating role of phosphate supplements in Dent patients to lower urine calcium in safer way than thaizide diuretics, but they have to be older then 18 years old to get phosphate supplements.

 

 

For the younger patients, we will do all measurements of hormones important for the calcium and phosphorus metabolism, without giving phosphorus. You could do that remotely (not in any of our centers), if you bring 24h urine and get blood drawn in the local lab. This could help understand what is happening with your son better since we are doing tests not routinely done in private offices.

 

Let me know if you are interested.

 

 

Did you join our registry? You could contact us at rarekidneystones@mayo.edu| rarekidneystones.org.

 

 

We are also having a patient meeting in Chicago in June this year, meeting other parents and patients could be useful.

 

 

Many regards,

 

 

Lada

 

 

Dixie5346 Message
14 Jun 2012, 09:17 PM

I was wondering why both of my sons' had problems with potassium loss while their kidneys were chronically failing? It is my understanding that most kidney failure patients have the opposite effect. Is this something that presents with Dent Disease?

Answer

Yes, Dent disease specifically has damaged proximal tubules, section of the kidney important for re-absorption of several important molecules, including potassium. That's why sometimes in Dent disease you can have low potassium. As the kidney failure progresses, that could be reversed as kidney in the whole fails to excrete potassium.

54321 Message
20 Jan 2012, 08:03 PM

Lada

 

Excuse me if I've asked this elsewhere - not sure if I pressed the right button.

 

My 20 year old son has Dents and came home I'll with tonsilitis and Glandular fever from SFSU . He's had a biopsy and bloods and CAR scan and the doc is satisfied the drop in function from 78+ to 46 is due to the throat problems and ibuprofen causing kidney inflammation. He has prescribed Steroids(prednisone ) but wants him monitored in SF on his return . Can you recommend a nephrologist - he will have a very full letter from our Doc and will only be there fromJan 28 to early May when he returns to the UK.

Answer

Same confusion here!

 

Please see my answer in discussion forum.

 

 

Lada

54321 Message
20 Jan 2012, 12:31 PM

I've set out my family situation on another post. My son is doing his third year of a 4 year degree at SFSU. When he came home for Christmas he had glandular fever and tonsilitis. He had been taking ibuprofen. His kidney function had fallen from78% to 46%. A biopsy has been carried out and the pathologist and doc are satisfied the inflammation and results have been caused by the throat problemsand/or ibuprofen. They are prescribing steroids to reduce the inflammation but say he will need monitoring- blood tests presumably to see if the steroids are working and when they can be reduced. Do you know of a nephrologist who can do this in San Francisco or the Bay Area. Otherwise I'll just have to google names which is not ideal!

Answer

Debra,

 

 

Please look in the discussion forum, I have not noticed the question until now.

 

 

I wish Dan fast recovery.

 

 

Lada

vistaonly Message
27 Nov 2011, 07:07 AM

kari,

 

 

My son has dents disease. We go to

 

Stephanie Jernigan, Dunwoody pediatrics. She is very knowledgeble and good. This is in atlanta, GA. Not too far from chattanooga.

Answer

Thank you very much for the information.

pscoop Message
14 Mar 2011, 11:11 PM

Hi Lada, amazing to find this site. Thank you so much. Will be registering on the site address you have given. Paul

Answer

Thank you Paul, this is great!

 

Did you see Dr. Thakker?

 

I'll let Barbara know that you'll contact her.

 

 

Lada

kari Message
6 Mar 2011, 11:38 PM

Hey Lada, was hoping you might know of a pediatric nephrologist in or near Chattanooga TN. We are having a hardtime finding a doctor to help us. my 15 yr old son has Dents, severe osteoporsis, and sever ichtheosis, among several other battles he is going through. i appreciate any help you could give me.

Answer

Hi,

 

 

I don't know anybody with specific interest in Dent disease but I did find a name of pediatric nephrologist who was highly recommended from Mayo clinic.

 

This is her contact information:

 

 

 

Dr. Kathy Jabs

 

Director, Pediatric Nephrology

 

Vanderbilt University

 

3601 Tvc

 

Nashville, TN 37232

 

(615) 322-3000

 

 

Let me know if it helps.

 

 

Lada

 

kjsjd Message
25 Jan 2011, 11:06 PM

Hi Lada

 

I'm in the UK and we've just had the genetic testing back positive for Dents1 for my 8 (almost 9) year old son. It is great to find this site and I've read some of the discussion strands. We've been through the unresponsive to oral pred route after first presentation, the ACEIs which dropped his PCR from 400+ to 250 ish initially before some rebound, adding in an ARB and more recently trying oral tacrolimus for 9months as his first renal biopsy aged 5 suggested FSGS. The tac intriguingly dropped his PCR to below 200 for the first time, but his creatinine started increasing and as we weren't obtaining maximal results we agreed to stop it. He is currently on an ACEI only and we are considering options - I'm not keen on thiazides due to s/e (and not only that but the poor little man still has nocturnal enuresis) and I try and get him to drink as much citrus juice as possible (interestingly he loves sucking lemons as he says they make him feel better!). My concern is his growth; I haven't found any medical articles specifically relating to Dents and poor growth, although I have seen several anecdotal comments regarding this on your site. His growth has been pretty much static for the last 2 years and he has dropped from the 95th centile at birth off the bottom now! What is your experience of this and do you have any research/papers you can point me towards. Otherwise my son is great - a real character. In case you were wondering, I'm a GP in the UK and I picked his proteinuria up (whilst he was entirely well) as I noted his frothy urine one day when he forgot to flush the toilet!

Answer

Hi, it has not been uncommon for a child with Dent disease to be treated with immunosupressive therapy before the right diagnosis is made.

 

 

Our common goal is to increase awareness of Dent disease and improve accuracy of diagnosis, because Dent patients are out there. Interestingly, adults get diagnosed much less, usually in retrospect once a child who is a grandchild is diagnosed.

 

 

I have read about growth delay in Dent.

 

Look at this article from J Pediatr Endocrinol Metab. 2008 Mar;21(3):279-86.

 

 

Summary:

 

Dent disease, an X-linked recessive renal tubular disease, results from loss-of-function mutations in the CLCN5 chloride channel gene. The effects of Dent disease on growth have not been described. We report siblings who presented with proteinuria, calciuria, and phosphaturia and growth failure who responded to growth hormone (GH) treatment. Genotyping revealed a novel c.2179delG frameshift mutation at codon 727, exon 12 of the CLCNS gene. Two years after initial presentation, linear growth had slowed, and evaluation revealed isolated GH deficiency. GH therapy resulted in more than two-fold increases in height velocity and serum IGF-I levels. There was no net change in estimated glomerular filtration rate, proteinuria or calciuria in response to GH therapy, but there was a delayed improvement in phosphaturia. These cases provide insight into the effects of GH on growth and renal function in Dent disease. Furthermore, we have reported a novel CLCN5 mutation.

 

 

 

 

We are trying to establish a patient advocacy group. Because patients are so far apart, somebody suggested to me that teleconferencing for meetings.

 

 

We would also like to collect de-identified information on Dent patients and put it together in registry, to be able to observe clinical course (like growth delay) and if and how different medications can have long term effect.

 

Would you be interested?

 

 

It is good to hear from Dent families. I hope I can help.

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Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.