I have set out my family history in another thread but briefly we are in the UK and have boy/girl twins of 20 and a 14 year old boy. All have the defective CLCN5 mutation which is characteristic of Dents. All have been symptom free- no stones, clear ultrasound but protein in their urine. The 20 year olds GFR 2 years ago was 90+ , last year it was 78 and on return from university in San Francisco where he is spending the 3rd year of his UK degree it's down to 46. The doctors are very puzzled at this dramatic fall. However he's come back feeling really sick with a bad throat and among his tests they have found he has/has had glandular fever and has tonsilitis- he has had a number of throat infections since he went to Uni . The scan of his kidneys was clear. They are considering whether the throat problems are linked to the fall in his GFR. Anyone come across this?

Hi there. Am in UK too - mother of 2 sons, I'm a carrier, one son 9yo asymptomatic with Dents and the other 12yo all clear genetically. I know that streptococcal infections (which cause sore throats) can also cause glomerulonephritis (inflammation of the glomeruli in the kidneys) which are already sclerosed in Dents. So it may be that he had strep causing his sore throat and also affecting his kidneys. My son has also recently been in hospital with Budd Chiari ( a blood clot in his liver causing acute liver failure). He has had surgery and is ok now. Does anyone out there have any experience of thrombosis together with Dents? My son also has growth hormone deficiency which (I picked up from this site) has been reported with Dents. Where are you in the UK? Our renal consultant is in Bristol. Best wishes!

The latest is that he needs a biopsy (this week)for them to try and clarify the situation. There is also some suggestion he tested 'slightly' positive for ANCA- made the mistake of looking that up on the net which has me even more worried so I'm anxious to see the Doc and find out more. We are in Southport and till he was 18 he was looked after by Alder Hey a huge childrens hospital in Liverpool. Now he's an adult it's the nephrologists at Aintree Hospital.

Hello. I'm also in the UK (West London). Not sure if it is relevant, but my son, FJ, had lots of tonsillitis as a child. Diagnosed with Dents aged 10, but no problems at all until acute kidney failure, aged 17, which was secondary to streptococcus septicaemia. He is 20 now & refuses to have any medical check ups, but his creatinine stayed between 300 - 350 (estimated GFR 25) up till 18months ago (when he had his last blood test). Hope your son's biopsy goes ok, 54321 & sorry to hear about your sons liver problems, kjsjd. A great worry for you both, I'm sure. I wish you well.

What is clear from all of this is that those with the defective gene have a variety of problems ranging from minor to major. My brother Paul, who is now 60, had problems from childhood rickets through to kidney failure and dialysis at 16 to the first of two transplants at 37. Professor Oliver Wrong who was I think a friend/colleague of Dr Dent and wrote a number of articles about Dent said Paul had all the worst symptoms .He's now back on dialysis. However he has had a full life- he's married, has a child, had a very successful business and it is only now that he is limited by the condition. The challenge for our children is not to let it define their life. Hence Dan my 20 year old is at Uni, spending a year in America as part of the degree and while at uni has done a charity hitch hike to Morocco and holidayed in Vietnam, Cambodia, Italy , etc etc. All with our encouragement. At least if he faces limitations later he will have had a blast while he can!

Well the results of Dans tests and biopsy are largely positive. GFR up to 53% and creatinine down. Inflammation due to the throat problems and ibuprofen is the conclusion drawn from the biopsy. Dan will take steroids for a few months which will hopefully reduce the inflammation and restore some more GFR. Unfortunately have to try and find a nephrologist in San Francisco to monitor him for the few months before he returns.- hoping someone on this site can recommend someone. Wonderful nephrologist at Aintree Hospital- Dr Sharma- cant speak highly enough of him and how brilliant the NHS is when you really need help. Also the Doc told my son to stop smoking- I had told him but of course you don't listen to your mum.....

Glad to hear re the improvement.....! best wishes

I'm really glad Dan is better. It appears that his present kidney problems are unrelated to Dent disease and are result of the infection/inflammation. Ask his doctors weather he has postinfectious glomerulonephritis (inflammation of the glomeruli which can be due to Streptoccal throat infection) or interstitial nephritis (inflammation of the interstitial tissue), or both. Both can respond well to steroids (prednisone). I will ask about a pediatric nephrologist in San Francisco area and will get back to you. Lada

My understanding is that kidney patients should stay away from ibuprofen. Lada, can you please comment? Thanks, Jeanne

Medications like ibuprofen (motrin, also naprosyn, diclofenac etc.) which are called NSAID's (non-steroid antirheumatic drugs) are known to cause kidney failure, especially when a person is dehydrated because they can reduce blood supply to the kidney. This effect is usually reversible. They can also cause interstitial nephritis or hypersensitivity induced inflammation in the interstital space of the kidney. Small amounts do not have to cause harm, but they are best avoided in general. Instead, for pain or inflammation we recommend tylenol in kidney disease. Lada

Lada . Dans viral load is low enough for glandular fever for him to start on steroids. Our consultant has had a Dr Lowell Lo from UCSF hospital recommended to monitor him. He feels Dan should have his blood checked weekly to make sure all is well. I just hope it's not too crippling financially as his insurance won't cover out patient treatment! We're spoilt in the uk never having to worry about cost and I have to say when I read some of the posts on this site I appreciate how very lucky we are: there may be issues with our NHS but if you have something like Dent it's the only place to live! Debbie

I have another name for you if this contact does not work: Lynda Frasetto. frassett@gcrc.ucsf.edu http://nephrology.ucsf.edu/people/lynda_frassetto.html Maybe they even work together. You can tell her that Dr. David Goldfarb from NYU recommended her to you. I understand that cost is an issue and we are batteling with the problem of health insurance and access to health care in the US, unfortunately. Best of luck and keep us posted! Ask the nephroogist in the UK if Dan has glomerulonephritis or interstitial nephritis. Lada

Thanks for that Lada - everyone has been very kind.The doc recommended to us responded very promptly to our doc and dan has an appointment next Friday at the clinic. I will feel much better now about him taking the medication knowing there is someone to watch over him. He also gave him other pils to deal with the risk of bone thinning and stomach problems from the tablets. The doc said interstitial nephritis. I will keep you posted! Debbie

Ok, that's better. The steroids will help. I'm glad you have somebody he can follow up with. Keep in touch and all the best! Lada