Living with Alport Syndrome

living with alport syndrome

As Kidney Month continues, so does my discovery of renal conditions.  I am pleased to introduce you to Katie.  She and two of her sons have Alport Syndrome.  She has graciously taken time to share her experience with us. 

But first, let's define the syndrome:  

Alport Syndrome is an inherited disease of the kidney that can also affect the inner ear (cochlea) and eye.  It is caused by genetic mutations that affect the type IV collagen family of proteins.  Type IV collagen is a major part of important tissue structures called basement membranes that are present in all tissues including the kidney, inner ear, and eye.

There are three genetic types of Alport Syndrome: 

1. X-linked Alport Syndrome (XLAS) -  which is the most common; in these families affected males typically have more severe disease than affected females. 

2. Autosomal Recessive Alport Syndrome (ARAS) - affects males and females similarly.  

3. Autosomal Dominant Alport Syndrome (ADAS) - affects males and females with equal severity.

All found on Alport Syndrome Foundation
Alport Syndrome Affects on body
What is your diagnosis?

My sons and I have Alport Syndrome.  It's a chronic kidney disease that is genetic from my side.  

What were the symptoms that made you seek treatment?

My oldest (6) was diagnosed at 3 after having a few misdiagnoses of UTI's from seeing blood in his urine.  After complaining he had a biopsy done on the kidney.  My middle son (3) had no symptoms but we chose to test his blood (and mine) and both came back positive.  My youngest (1) has not been tested.

I've read that Alport Syndrome can affect males more severely than females.  Is this true in your case?

It's worse for males since they will/can lose hearing and eyesight at an early age and will definitely need a transplant and be on dialysis as early as their 20's.

With women you usually don't see renal failure until 60 - 80 years old. 

What treatments have you had?

The sooner you catch it, the sooner you're put on a preventative ACE inhibitor.

Do  you have to have follow up tests/scans/labs?

We get labs every 6 months for urine (protein, hematuria, creatinine) and blood (full renal panel).

For further reading please visit the Alport Syndrome Foundation. 

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