Alport Syndrome

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nycpetit
Posts: 262
Joined: Fri Apr 23, 2004 11:00 pm
Location: Miami Beach

Alport Syndrome

Post by nycpetit »

Been a loong time since I posted here. Had my tx August 12 2004.
This summer I finally found an eye doctor who could diagnose my vision issues.
I have been everywhere and always told "this is the best we can do"
No glasses, contacts hard or soft or scleral worked. It was the latter that were supposed to work and when I told
The eye doctor they had not he looked further into my eye.

Lenticonus anterior.

He had never seen it in 22 years of practice but saw the bulges on my lens.
Also had the beginnings of cataracts from just 2 years of steroids pre transplant, posterior lenticonus (bulges on the back of the eye lens) and severe astigmatism.

As I left the office I googled lenticonus anterior and was floored. It's a hallmark eye issue found in Alport Syndrome which is a recessive gene inherited disease and very rare. Both of my parents had to carry the gene.

I had every symptom. The hearing loss unexplained at a young age. The kidney transplant that never had a specific diagnosis and now the eyes.

I had my first cataract surgery last week and can see again in the right eye.
This is a rare disorder and even rarer in women to get to this degree.

i see a few others have Alport here. What is crazy to me is that no one ever looked for it. I had mild vision issues at the time of my tx but not bad. Just annoying. But the hearing loss happened around age 9.
It was crazy to read about this and realize it is what I have!
When we offer a hand, others are lifted.
AmandaClare
Posts: 658
Joined: Tue Sep 18, 2007 1:58 pm
Location: London

Re: Alport Syndrome

Post by AmandaClare »

I'm also very surprised that no one joined the dots as you sound quite a classic case! At least you are getting proper treatment for your eyes, at last.

At what age did your kidneys fail? Mine went at 14.

There are 3 patterns of inheritance in Alports. I definitely have the recessive type, confirmed by genetic testing. I have fairly severe astigmatism which I've been told is probably unrelated, though no one is sure.
Alports Syndrome
Dialysis 1986, aged 14
Transplant 1988, still going strong!
Baby boy 2010
rheaybou
Posts: 1381
Joined: Mon Nov 14, 2011 11:04 am
Location: Doncaster

Re: Alport Syndrome

Post by rheaybou »

I had none of the symptoms, in fact it was blind luck that I was even able to be diagnosed with Alports after my Uncle had unexplained renal failure in his late 40's.
Now 35 with Alports and I had my first kidney-versary 18th feb 2013....I hope to have many more.

My living donor and his family are doing all well.

==
Alports.
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