Hi, my name is Emily Sorenson from Iowa. My 5 year old son, Alex is getting ready to do the genetic test for Dents. My question for all the community is what prompted you to seek medical attention for yourselves or your child. For me, my son's knees were becoming "knocked" An x-ray determined he had rickets. Continuing with test after test, we ended up at the pediatric nephrologist. I've read all the forums on this site and no one has mentioned rickets. I know it can be a symptom but was wondering how prevalent it was in Dents patients. I would've had no idea that knocked knees and your kidneys would have any connection. Thank you in advance for all your input. All of you have taught me so much about. this disease

Hi Emily I have essentially just come out of your exact position. As you may have read from my posts, my son Isaac has gone through genetic testing (as have a few other members of my family) and yes, rickets came up with our nephrologist. He had an x-ray on his wrist that showed some bone weakness. My father had rickets as a child and my mom has a type of osteoporosis (no clue if any of that is connected). He was also tested for signs of cataracts. I hope the genetic testing is quick and swift, not knowing is tough.

Rickets are a well described finding, not as common as proteinuria, hypercalciuria and nephrocalcinosis (kidney calcifications). The cause is likely loss of phosphate, high 1,25 vitamin D. Both of them would be ideal for FGF and phosphorus study, we are trying to identify the mechanism. Good news is that this is fixable, you need a good guidance. I would be happy to assist your physicians. Lada

Thank you Lada for your response. Alex does have all the common findings as well, proteinuria, hypercalciuria, nephrocalcinosis, hypophosphatemia, ect. We have a doctors appointment at 1:30 CT today. I talked with Alicia Meek at Mayo on Monday. I would like to talk to you in regards to our conversation and also wanted a bit of advise before our Dr. appointment today. If you would have any chance to contact me I would appreciate it. I understand if you are busy today but would like to visit if you have some free time in the future. My number is 712-260-6953. Emily

Hello Isaacsmom, thank you for your support. As we await testing, the doctor is starting Alex on various medications. May I ask if Isaac is on Thiazide and if so, is he tolerating it o.k.? Alex 24 urine results showed high levels of oxalate, phosphorous, calcium excretion. Along with everything else that is lost in urine through this awful disease. Confirming Dents is fine but there is no cure and treating the symptoms is all we can do. Also, did they prescribe Vitamin D and K-Phos for his bone disease? (Rickets) Just bouncing a few things off you as its a lonely world out there, especially when all our doctors here in rural Iowa have never even heard of Dents Disease. Just breaks my heart to have Alex poked and prodded what seems like every other day, as they try to figure out his levels. Very hard to explain to a 5 year old that its in his best interest, when a mommy is suppose to protect him and not let others hurt him. Thank you for letting me vent Isaacsmom!

Emily, Wow. This is hitting so close to home. I understand the confusion your son must be feeling. We were at the doctors for almost 4 hours yesterday and we are now moving forward with an official Dent type 1 diagnosis. I will share more with everyone when I can really take some time later today. In the mean time, let's plan to keep in touch. My email is BrandyLDaigle@gmail.com. Get in touch with me & we could probably even talk on the phone later today!

That would be great. My number is 712-260-6953. I'm waiting on doctors phone calls as well. I don't have your number so feel free to call me anytime. Emily

Dear Emily, I'm sorry I did not see your message earlier and was not able to call you before your doctor's appointment. I have left you a message today. Call me anytime and we can discuss further. It would be good if we could do our initial measurements before your son starts taking medications. Lada

Hi - I've been away from this site for a while and hadn't seen this post. My son with Dents 1 (now 14 1/2yo) developed knock knees which got worse quite quickly once he reached puberty. He was diagnosed with a low Vitamin D and seen by an orthopaedic surgeon who decided that his knock knees were bad enough to undertake surgery: he had a plating procedure to the inside growth plates on both knees in June this year. He is doing really well. He also has growth hormone deficiency - diagnosed by insulin tolerance tests and MRI of his pituitary gland, together with X-rays of his wrists for growth and is also on growth hormone - he has gone from between the 2nd and 9th growth centiles to the 75th... hugely important for his self esteem. We are still trying to get to the bottom of his behavioural issues - he is being assessed for autistic spectrum/aspergers soon. he is known to have dyslexia. Hope all's going well with you guys.

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 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.

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