Alports Syndrome

[Prue B]

My sister has just had a presumptive diagnosis confirmed. She has Alports (otherwise known as heriditry nephritis) part of this diagnosis was based on her having KC. Does anyone else have Alports or kidney related issues?

[jayuk]

Prue

What did they say...to make this reference to KC?...just trying to understand how they made there diagnosis based on KC.....intriguing....

J

[Andrew MacLean]

Pru

Isn't that interesting. KC is associated with Alports. It is becoming increasinglyevident that there are a number of factors that can lead to KC, and that it may be that each of us needs one two or more of these co-factors in order fr KC to eshibit and progress.

Please wish your sister well from me.

Andrew

[Prue B]

It is a disorder to do with the body not being able to produce type 4 collagen. It tends to be carried on the x chromosome so for boys means they produce no type 4 collagen, required for kidney health, in the ears and the eyes. If you have lenticonus (coning of the lens) and haematuria (blood in the urine) it is assumed it is Alports. The KC link is a new thing. Basically in boys it causes kidney failure and deafness, in girls 10% will get kidney failure and can cause deafness.
I am assuming if my sister has KC and I have KC our cause would be more likely to be the same rather than different, meaning I probably have Alports.
My sister has a daughter and I 2 sons and a daughter (the daughter is 4 and shows signs of early KC) I partook of some serious retail therapy today.

[Ken G]

Hi Prue

In response to your enquiry about kidney related medical conditions, I had nephrotic syndrome as an eight year old. More recently I had kidney stones (not pleasant!!), but that probably is not related or relevant.

What is it that leads you to think your four year old is presenting some KC symptoms?

[Lynn White]

Thanks Prue for that as I hadn't heard of that direct link either though with collagen being implicated it actually makes sense.

I feel these connections will become more obvious as KC becomes better monitored - especially for those with mild KC who do not necessarily come ot the notice of professionals for vision problems.

Lynn

[Anne B]

Hi all

I was really interested in this so looked it up on the web.
It mentions Bilacteral anterior lenticonus which is described as "the front surface of the lens bulges forward , may cause short sightedness."
Sorry if i am teaching you all to suck eggs, but i thought it was quiet interesting.

Anne

[Prue B]

The reason I think my daughter may be presenting with early KC symptoms, is her pediatric opthalmologist says her astigmatism is extremely unusual in children and a seen often with KC, and her astigmatism is also irregular also more comman in KC. Marry in a "strong" familial link and her "gut" told her Catherine has early KC.
I also have searched the net for Alports and only found one reference to KC, but apparently an Australian woman is doing major research into this particular link.
It is an interesting one and a horrid diagnosis, particulary if you are a boy, we have no familial history of kidney disease, thought I had renal reflux as a child. Because of this I always had a trace of proteir, but over my last pregnancy had the odd episode of haematuria, which I put down to previous damage due to a kidney infection as a child. My dr was not concerned, but my sisters was and recommended further investigation. leading to this diagnosis.
Weirdly the renal specialist my sister went to ahd a family history and our fathers name was mentioned, they apparently played footy together and my Mum and Dad both remember him from before he studied medicine.

[Lynn White]

Prue

Do you know who this Australian woman is? I would really like to know!

Lynn

[Prue B]

Sorry it took so long Lynn, her name is Prof. Judy Savige. She is at the University of Melbourne.