Hi to all in Dent community! I'm trying to screen to see how many people would be interested in the web-type meeting, since we are all dispersed. We could do it with Skype, possibly. I'll ask around regarding the technology. Ideas? Please just say yes or no, to screen how many people would be interested. Regards, Lada

Hi from Brisbane, Yes with bells on. I'll have think about the techonology options too. Caroline

Yes

Definitely!

Yes

Definately!

Yes, hopefully, depending on when it is.

Yes.

Yes, we would be most interested.

yes

I think this is pretty good, we have 9 people interested. I have talked today with Dr. John Lieske from Mayo clinic. We have a conference call with members of our Dent team next week and we will discuss techincal aspects of this future meeting. We would like to get a video in Mayo clinic and we will look into including visuals of all if possible. If anybody has any good idea about how to do it, please tell. I am also interested in possible topics you would like to hear on this 1st official meeting. We have, of course, our own ideas and we will try to integrate them into agenda. Let's see how this works! Lada

Hi. Just saw your message re: Web Meeting. YES (so now we are 10!) Will ask hubbie to help with Skype. We have it but not completely comfortable. I am not very technological oriented. If not maybe some kind of chat (Facebook)?

Not on facebook, but have skype - can you skype more than one person at a time? Will need to give all a slot to speak as this could be such a valuable meeting... Possible discussion points - Medication - pros and cons of different sorts acei/citrates/thiazides Disease progression - in your experience ? timeline Healthy living - what can we do to slow progression/look after our kidneys? Support each other.....

Definitely agree with kjsjd about topics to discuss: Medications, disease progression and healthy living.

I also agree with kjsjd. They are good topics.. If I can add -maybe everyone who has Dent's has other physical traits in common. I mean to say- Wouldn't a mutant gene of any kind affect more than one part of the body? Could the parts affected all have something in common? If the kidney is made to last so long, how can we fool the body into making it last longer? In my readings on Dent Disease, it was mentioned that maybe the loss of protein from the body through the kidney hurts the kidney itself in the long run. Sorry, just questions in my mind.

Could one possible topic for the meeting be how parents of adult Dents children can support each other and their kids? I think a few of us have kids over 18, and mine is 25. Since he's a legal adult with his own health insurance, I have a much different parental role than those with small children. Jeanne

Valid question, Jeanne. My son just turned 19 (18 years old is an adult where we live) and just started college in another city last September. So for the first time in his life, mom is not there to see that he takes his meds and I am sure his sodium intake must be so much higher than at home as he is now eating commercial food every day (although he also cooks some meals). And because he doesn't feel sick, he does not care about doctor visits, etc. For the moment, he does not dwell on his kidney condition, and I don't blame him. He should be enjoying this time of his life at the fullest if he feels good. Is your son living at home? What is his GFR? My son is down to 35% according to the last blood and urine tests.

minu, my son is in graduate school and has an apartment 20 miles away. I found that when he was an undergrad (1700 miles away), and also now, he's been really good about taking his meds. More so than when he was in high school. That said, he isn't good about brushing his teeth, but at least he does visit his nephrologist regularly and I join him. I still don't know what his creatinine is from his January visit because I can't ask the doctor, and my son hasn't after my constant requests. I did make a deal with his doctor, in front of my son, that he call if it gets higher than it has been historically. What's a GFR? I'm not familiar with that, I don't think.

Sounds familiar. Although I worry a little as it's his first year away from home, I actually also think my son is better about his meds now because he knows he has to take on the responsibility by himself. And I still scheduled his doctor visits for him this year and I believe his new nephrologist (he was forced to switch from the pediatric doctor) is letting me sit in the visits (next in May), which is good because my son (although he is a great young man) doesn't care to go to the doctor and specially ask questions. But, as soon as he turned 18, same as you, in some situations (bank, other doctor, etc.) they do not allow me to ask or talk. My family, from my father's side, is from Boston area, but I now live in Canada. In Canada, they measure the GFR, which I believe stands for Glomerulal? Filtration Rate. It is basically the percentage of kidney function that is still OK. When my son was diagnosed at 3 years old, his GFR was already at 55%, now around 35%. Once it's around 15%, I understand is the time when you have to consider dialysis, transplant, etc. They also measure the creatinine, etc., but until now we have always seen his progression through his GFR.

I just found this thread, since I haven't looked at this discussion board for a while. I'd love to "attend" such a "meeting!" So that makes 11 people! It would enrich the experience if each attender could post, ahead of time, a brief personal history with Dent's. That could help generate questions and topics. Lada, is there a way we could do that somewhere besides directly onto this board? Another topic that would interest me is an overview of X-linked genetics in general. I feel so confused every time I try to explain it to someone. Another: when my son's genetic test results came back, they said the mutation he had at the Clc-5 site was unique, so they couldn't verify that it was Dent. But the neph that interpreted the results said that there are few enough people tested that we don't really know for sure how many different mutations there are "out there", and since Mason's symptoms and other test results so clearly match, this is obviously a Dent mutation that will be recognized eventually. My questions are, (1) is there any way to check back in and find out if another person with this mutation has been found? (2) have people with similar mutations been shown to have similar symptoms? (3) I'm assuming that mutation runs true in families, but perhaps it doesn't? (4) what other interesting information is available regarding the variability of the mutation?

Julie, These are all very valid questions. Last time I checked, there were 148 mutations of CLCN5 that were discovered, which is a very high number of mutations of the same gene causing similar disease. I know you are in the registry already, I will check if we have your son's mutation listed. We want to be able to list all patients and their mutations and then compare people with same mutation, that is one of our goals and it is the same idea you had. We suspect that there might be "modifier genes" that cause people with same mutation to have different disease. That does happen. In the same family where people do tend to have same mutations (not always tested), people don't neccessarily have the same disease. Yes, people with different mutations can have siilar disease. How similar? The next goal of the research would be to find which genes or behaviors modified the disease. Now that could make a difference! Our genetic lab is awaiting approval for running and we will soon be able to do the testing ourselves. I will present all your suggestions at our Dent group phone meeting tomorrow, including the suggestion to share data beforehand. The simple idea would be to send all your summaries to me at lada.bearalasic@nyumc.org. I could gather all together and send as a chain email. You don't have to write your full names. I will update you of the meeting outcomes! Lada

And bluejeanne's message a few days ago did make me think that discussion points of interest are different for someone with a small child and for people like us whose son is already a young adult. I wonder if we could start various subgroups or threads for the separate age groups on this site, if we start communicating more and the number of members increases.

Yes!

I am brand new to this site and would be willing to get Skype for the meeting just to learn more about Dent's. My 23 yr old son is in the process of being diagnosed..so we are still in the shock stage. We've never heard of it...have no family history to look back on (my father was adopted, and died @ 73 of heart complications) my mother never knew her biological mother/and my mother's paternal history stoped with her father..so we have no idea, other than the fact that I must be a carrier..He has been hospitalized twice, in the last year..once for stones..and they kept him because his potassium was 2.4..and another time for potassium in the 2's. He is a vibrant, active 6'3, 225lb young man who has had the rug swept out from underneath him...and we are struggling to make sense of all of this. We live in Ohio.

Hi Mamacassidy, I'm sorry that this has come as such a shock to your son and your family. No one ever wants their child to have an illness, or any difficulties in life. You've found a good resource here. I'm certainly no expert, but I have some experience as the mother of a 25 year old who has known for many many years abut his diagnosis. Low potassium is completely normal with Dents patients. There are also ways of dealing with the stones, via meds and surgery. If your son doesn't have a nephrologist yet, I suggest finding him one.

Thanks for the reply Bleujeanne...he does have a Neph. and we have just sent off his blood to the lab to confirm the diagnosis. I think what we are the most worried about right now are progression rates & life expectency...since we have no family history to refer to. I have another son and 2 nephews...so naturally we are concerned about them also...do any of you have more than 1 child with this?

I'm glad your son has got a nephrologist. I only have one child. When I decided to get pregnant I asked if my father's kidney disease was genetic and was told no, only to find out many years later that it was. That's one of the reasons I only had one child. I don't think there is any set research about life expectancy and progression rates. My father didn't have any treatment until his 30's. My son has been taking meds prophylactically since he was quite young, so there's no way to know if it'll help in the long run. I always try think positive. Kidney disease is very different now than it was when my father's kidney's started to fail. If your son's Dents is confirmed, your other son and your nephew might want to get tested. They may or may not have it too, but it might be good to know.

I agree Bleujeanne, There have definitely been reports on families with 2 male children affected with the disease and I personally know 2 of them. The disease has X-inheritance, so there is a 50% chance for your son to get the disease if you are the carrier. However, the disease can also just start with your son - it can be a random mutation and that has been reported as well. 30-80% of affected males develop end-stage renal disease (ESRD) between the age of 30-50, although there are cases reported of end-stage renal failure developing in the 6th decade. Regarding life expectancy, it has not been reported, but you see that there is a wide variation of how the disease presents. Also, nowadays, people can get kidney transplant before they get to dialysis and the dialysis technique is much improved. Also, the outcome on dialysis is much better if the patient is otherwise healthy, which Dent patients are, since there is no other significant manifestation of the disease except possibly bone disease. Keep your spirit up! We will start an official patient advocacy group, we will have a web meeting and we are even planning a facebook page. Things are moving forward! Lada

Hi Mamacassidy. I have one 19 year old son and two daughters, ages 16 and almost 11. So the only one afflicted is my son. But I know the girls can be tested to see if they are carriers when and if they decide to know as adults. In my family, my father had 3 brothers and one sister. Of the four brothers, two had Dent's (and died in their 30's because of it), so it really held true to the 50% rule. I don't think my aunt was a carrier as none of her 3 children (now all in their 50's) or grandchildren, seem to be afflicted. And I echo Bluejeanne's comment completely. I try to stay positive as medicine has advanced so much since my father died. My father was seen in Boston ( by Harvard related doctors!) until his death in 1959, the same year I was born, and was not given any option, compared to what is now available. Lada, I am so glad to hear that dialysis, if Daniel goes through it, works much better with an otherwise healthy person. It gives me more hope as I have heard stories about dialysis, but, like you say, about people that have various ailments. I believe Daniel has no bone issues, although he has had broken bones 3 times in his life (6, 15 and 18 years of age), but all incidents were while doing crazy things during different sports. And he did take growth hormone ages 12 to 18. But we are all short in our home (he is now the tallest at 5ft 8!), so I wonder. The only other person in my family that has the disease is my uncle's grandson (in his 30's ) and he skipped dialysis, and had a successful kidney transplant from his mother (my cousin and carrier) more than 10 years ago. Daniel has never had a stone, that we know of, and I believe it is because of all the meds he takes.

I'd like to echo some of what minu said. My father had 1 brother and 1 sister. The brother does not have Dents, and as far as I know, no one else in my extended family is affected. I have a sister, but she's never had children and I don't know if she's a carrier like I am or not.

Mamacassidy. You mention that the unfortunate diagnosis of your 23 year old son came as a surprise (I am so sorry to hear that). I am just curious if he or you ever noticed his pee being different from others. The only visible sign for my son is his pee, and this has been noticeable since he was out of diapers when he was three years old. And that's when he was diagnosed with Dent's and we were surprised to know it was hereditary. Anyway, when he goes to the bathroom, even if he flushes, and particularly after his first (bigger) pee in the morning, you can see some bubbles. His pee, specially in the last years, is very foamy. And the times I have seen a collection of his pee in a glass jar, I have noticed it is 'thicker' than normal pee. Sorry for the 'gross' topic, but I just thought I'd mention it, as, again, this has been the only visible sign for Daniel to this date.

My son's only outward sign of this disease is foamy urine. My father had the exact same outward sign. My father never had stones and my son has never had any either. My daughter does. I believe that this disease can manifest a little differently in every person who may be affected. I wanted to tell everyone that they can sign up for Google Alerts, I signed up for anything that mentions Dent's Disease, so that any news on this disease I can be aware of everyday. Sometimes you may get a alert that has nothing to do with Dent's but mostly you do get news on it.I just received a notice about a young man in England who had it, he has a blog about it. There has to be a way to slow the progression of this disease. At least that is what we all want, that and a cure. It would be great if we could develop a time line for those affected who have been taking meds to curb the progression of the disease to see if the meds have improved the health of the kidneys. I do not think my father's generation knew enough about it to gather any information. It will be our sons generation that we can start on the road to educate and gather any and all info on this disease, help to assist the medical community to develop a treatment and assist in finding a cure.

epjfk, thanks for the google alerts suggestion. If you put it in quotes it might cut down on getting the wrong info. I just signed up for "Dent’s Disease" and "Dents Disease". Do you happen to remember the URL for the young man's blog? I'd love to read it. My son's foamy pee was what tipped us off that there was a connection to my father's kidney disease and my son's, because my father had it too. I wonder if our adult sons would be interested in being in on these conversations. I think I'll ask mine AFTER he fills out the medical information forms for Lada and after he's sent them to her. I've been asking him to do this for at least 6 months and he told me yesterday that he has started to fill them out. Finally.

Again, I echo bluejeanne's note (both my dad had and my son has foamy pee and my son has the same attitude about admin. things, although he is a fine young man).It would be great if they communicate among them, as Daniel definitely cannot share his illness with any other of his peers. Bluejeanne, the forms you mention are the ones for Mayo Clinic correct? Lada, if by any chance you send anything in the next few days, just let me know, as Canada Post is on strike since a couple of weeks ago and I am not receiving any mail. EPJFK: Yes, hopefully Lada's research will collect all our infos. In our case, my 19 year old son has been taking meds since he was diagnosed at three. I was optimistic at first because his kidney function, first diagnosed at 55% stayed relatively stable for a few years, but now am not sure that the meds have helped at all (except for no kidney stones) as in the last 3-5 year his kidney function did decrease more rapidly,. He is now around 30%.. Other members that had Dent's disease in my family felt ill in their 20's and 30's.

My son also took a little while to fill out the form and send it back. I asked him about it once and then let it go, finally he did send it in. Yippee! I did not want to nag him to much, but then I really did. If you know what I mean, I'm a mom, what can I say. My father lost the use of his kidney's at age 36, back in 1972. I am hoping that my son's situation will be different. I wonder if the kidney is developed programmed to last so long and why. Does anyone know of anyone who has Dent's who did not develop end stage renal disease? Right now my son is not taking any meds, I encourage him to drink oj and lemonade, he likes both so he will do that. I know that it is hard to know one has a illness that may be pre -determined to develop slowly into the loss of one of your needed organs. A website might be good for them, but will they utilize it. Meanwhile, we can work at gaining as much knowledge that we can to help our boys. When I was a child I use to sell kidney candy door to door, with my Dad driving along in our car, keeping an eye on us. That was one way to raise money for the National Kidney Foundation. On the back of the tootsie rolls/bank containers there were all the warnings signs of kidney problems/failure. Back pain, swollen ankles, bloody urine, high blood pressure, puffy eyes, urinate alot. He has foamy urine, which means protein in the urine, and sometimes has pressure in his back. He does not have the other signs. Do you think it is because his kidneys have not progressed to that point yet, or his body doesn't know that his kidneys are slowly deteriorating, that his system doesn't know something is not normal. So much to figure out yet. I will try to find that url for the young man's blog.

Henry Kimbell from South Wales London.

minu, yes it's the Mayo Clinic forms. Lada can email them to you, as she did me. I forwarded them to my son via email many many months ago and he did nothing. Last Monday when I accompanied him to his semi annual nephology appointment, I printed the forms out, complete with a stamped envelope, and handed them to him and reminded him how important it is for him to help in the research. As of last night, he had filled them out half way, and both his girlfriend and I put the pressure on for him to finish them and mail them. epjfk, my son has trace amounts of blood and protein in his urine, extremely low blood pressure, and potassium (but is not doing anything to up that as per his neph's instructions) and we found out this week his vitamin D levels are way too low so he's going to start taking vitamin D. His creatinine is stable at 1.8 (which I think is 180 in the UK and I can't remember what it would be in Canada). Other than that, he's doing really really well. My son does talk to people about his kidney disease, and I'm glad he feels comfortable doing so.

OK, thanks Bluejeanne. My son did send the Mayo form back months ago, so we haven't missed any new ones. epjfk: I am no doctor (Lada or someone else would know the answer) but I believe people with kidney disease do not feel ill until the function is really low (around 15%).

No Minu, I don't ever remember that when he was a child, and I txted him Friday and asked him about it, his reply was..lol, no why, should it be? His biggest symptom is very weak legs when his potassium gets low. His friends know about it, but I know he feels tainted because of it. He's already talked about not having children, as to not pass this along. And of course...if I am a carrier...I do carry the burden of passing this on to him...although unknowingly...I abhor seeing him struggle with this..and I think having a place to go with his thoughts, like a site for those afflicted, would be beneficial....I don't know..... this is all so..crappy....I can't even fathom losing my child or watch him struggle..it just hit us completely out of the blue..I'm sorry...I know this all sounds so negative.

Mamacassidy, Don't let yourself have these heavy thoughts, most of the people with Dent and renal failure do very well. Is your son taking regular potassium supplementation? I'm sure he is. Remind him to take it on regular bases. Minu is right, collecting all this information is exactly what we are doing, to understand the disease better. We will update it yearly. I'm looking into studying avoiding of thiazide diuretics as being poorly tolerated and finding alternative treatment. Hope that will get me more funding to spend more time on Dent disease. There are also more studies out looking at molecular effects of different mutations. Maybe one day we'll have specific molecular therapy! Science is advancing rapidly and there is hope. Our role is to keep attention to Dent. Even if it's a rare disease, to show it's worth researching. We wanted to start a Facebook page to be more visible to young people. You are right, you don't have to "feel" kidney disease for a while, sometimes when your kidney function (Gfr) is below 15 ml/min. However, you can have consequences of kidney failure earlier - sometimes between Gfr 30-60 ml/min you can already have high phosphorus, elevated PTH, especially below 30, you can develop anemia. That's why seeing a kidney doctor is important. Dent is a little different than other kidney diseases, too and it's not completely clear how things develop which makes more important collecting data and learning about it. I have watched a National Geographic documentary on stress yesterday where it was pointed that the communication between people with similar problems can greatly help coping with stress and it's detrimental effect on health. Hopefully, we can do even something more! Lada

Mamacassidy, Don't let yourself have these heavy thoughts, most of the people with Dent and renal failure do very well. Is your son taking regular potassium supplementation? I'm sure he is. Remind him to take it on regular bases. Minu is right, collecting all this information is exactly what we are doing, to understand the disease better. We will update it yearly. I'm looking into studying avoiding of thiazide diuretics as being poorly tolerated and finding alternative treatment. Hope that will get me more funding to spend more time on Dent disease. There are also more studies out looking at molecular effects of different mutations. Maybe one day we'll have specific molecular therapy! Science is advancing rapidly and there is hope. Our role is to keep attention to Dent. Even if it's a rare disease, to show it's worth researching. We wanted to start a Facebook page to be more visible to young people. You are right, you don't have to "feel" kidney disease for a while, sometimes when your kidney function (Gfr) is below 15 ml/min. However, you can have consequences of kidney failure earlier - sometimes between Gfr 30-60 ml/min you can already have high phosphorus, elevated PTH, especially below 30, you can develop anemia. That's why seeing a kidney doctor is important. Dent is a little different than other kidney diseases, too and it's not completely clear how things develop which makes more important collecting data and learning about it. I have watched a National Geographic documentary on stress yesterday where it was pointed that the communication between people with similar problems can greatly help coping with stress and it's detrimental effect on health. Hopefully, we can do even something more! Lada

I was precisely thinking that a Facebook page would be the best for our young adult sons to communicate, at least for mine. Mamacassidy, I am surprised your son's urine is not foamy (does he not have high protein excretion?) if it is Dent's. I understand your negativity. I feel for you; it must be horrible to find out suddenly when your son is already a young adult. Although my own son has led a normal life until now, I do wonder often what the future will bring for him. But, on the positive side, I know my cousin's son, who is now 38 years old (married with 5 kids!), had a kidney transplant about 15 years ago, and is doing well as far as I know. He did have a brief bout of cancer (could find out which type from my cousin) a few years ago which was attributed to the anitrejection pills but it's been a few years now . If we did do a Facebook page, I would ask my cousin and her son if they would like to join too. I don't have much contact with them but they are both on my facebook.

Mamacassidy, Knowing that you are doing all you can to help your child and knowing that there are some options available to your son, and all of those affected by this disease may give you some solace. Any illness is a heavy burden for the one who is sick, and they alone bear the weight. But we can help.Take it day by day. LadaBL-I am glad you are looking at alternate meds for thiazide . My son took that for awhile when he was in grade school/middle school, but he felt weird and uncomfortable, so we took him off it.

Thanks, this means a lot. It is so important for me to hear from all of you and to hear your concerns. It can really guide the research.

Hi Mammacassidy We are a community here all united by the same thing. It is very rare, that;s true, but I am convinced that the people we know with it must be the tip of the iceburg. I have just been tested for it myself as my 9 year old son has it, and if I have it, then at the age of 41 I am fine other than frothy wee myself (although I am a woman and probably only a carrier).My other son who is older is fine (and will be tested if I am positive). My geneticist says 1/3 of cases are spontaneous (I hate the word mutation!!! don't you all??)... Lada, perhaps you can give us more info here. But I guess I am writing this to say that you are not alone and that there are things that can be done, so don't lose heart and stay positive... your son needs that... We are all here for you.

I also believe numbers will make us stronger, so it is important to reach the most Dent patients we can. In my family, I mentioned by cousin's son (38 years old) has Dent disease (or had it, as he had a kidney transplant). I exchanged e-mails with him recently asking him to contact the Mayo clinic or Lada, and he told me had no idea he had Dent disease! A doctor had told him it was Alport syndrome, I think, which cannot be the case as he has perfect eyesight and hearing according to him! So, I am sure, there are many people with kidney problems that do not know that it is specifically Dent disease.

I think so too,, minu. The disease can hide itself so to speak with female carriers for awhile, until a male shows up. It could be in alot more families which could help the research and the people affected by it. The more knowledge, the better. My father had us all tested (urine test) when he got sick, he had heard whispers about other males in his extended family having kidney problems, but of coarse none of us showed anything, 2 boys and 3 girls, so he continued to believe he got it from a reaction to strep throat as a child, It only shows up if the female carrier passes it on to a son. A.mutant gene must be like any other gene, it wants to carry on.