Hello, my name is Ashley. My 4 year old son has been struggling with Kidney issues ( Fanconi Syndrome, rickets, hearing loss) since he was a year old. It had been labled Idiopathic Fanconi Syndrome for years until recently. After an ultrasound his doctor had determinded that all of his issues point towards Dent Disease. I was informed of this by his Nephrologist over the phone, and have an upcoming apt to discuss the disease further. I guess I am just looking to hear from other people or parents/loved ones who are dealing with this disease, a little bit of history possibly. It's easy to become overwhelmed with the overload of information the internet has to offer which is why Im looking for others actual stories, intead of a load of scientific terms. Any help would be greatly appreciated!

My son and I put up a website to inform others about Dent Disease. www.dentdisease.com You can link to other sites and get more information on the disease from the website. It is overwhelming but we can work together and do the best we can to help our loved ones.

My son was only diagnosed last December, it was really difficult to hear he had a genetic disorder at the time but as we have gone along it has been easier to deal with. He has growth hormone deficiency and dents disease, His kidneys are leaking protein and there is some calcium loss. He has stage 2 chronic kidney disease (he is 8 years old) but is doing well and his doctors are pleased with him. He also takes medication for the protein leak which we have had to alter his diet due to the side effects. He manages well and is a normal happy child. At least if you now have a diagnosis you know what you are potentially dealing with. If you have any questions please ask and I can tell you what we experience

Ashley, my son is 14 and was diagnosed with Dent at about 11 (?). We went about 5 years before that with an incorrect diagnosis, and treatments for that diagnosis that weren't working. From what I can gather in talking to different doctors and doing some research, Dent can present in a wide variety of ways and symptoms look quite different from kid to kid, especially in the US. I think, in Japan, where it's more common, the presentation is more recognizable. So stories from others will be encouraging and supportive, but might not tell you what to expect. I know that my son was diagnosed by way of a genetic test, and we were told that Mason had a mutation at the ClC-5 gene, but that it was the 20th (!) mutation they'd found. A little research told us that they don't yet know which of the mutations match to which of the symptom-sets... so we don't know yet which long term prognosis we can expect for Mason. Read a little bit on this forum, though, and keep asking questions and talking to folks. It's an interesting group of people!

Thank you all for your help. We are currently still awaiting genetic test results from the Mayo clinic - I am sure that once those come in I will be able to better educate myself.

Ashley, as much as it breaks my heart to see so many other young children affected by this disease, it also helps me in a way because I do not feel so alone. My son is seven and was just diagnosed with Dent's about 2 weeks ago. It is very overwhelming to take in all the information, but I am so happy we finally have a diagnosis. His nephrologist was hesitant to treat anything until they had some type of diagnosis, so now that we have it, we are able to move forward. I hope you find strength from others here as I have and able to get answers to your questions!