mdwannabe
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I assume you know about the symptoms of the disease. So the only question is why all that in same person???
The answer to that is that classical X-linked Alport Syndrome (XLAS) is caused by mutations of a specialized collagen gene ("Col 4A5") located on the X-chromosome. So that is why you get early cataracts, and kidney basement membrane problemsa resulting in CRF, and nerve deafness.
Hope this helps.
For the exam just be able to recognize the pattern of disease and the signs of nephrosis vs. nephritis.
The only question remains, that some sources report that incidence m/F = 1/1 .. but this is X-linked, so boys should get it, and girls should not, since they have a spasre X to work with. Well apparently girls do get the disease, but in milder form and mych later in life.
Hope this helps.
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| namf
Forum Elite
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Thanks Mdwannabe--as usual, it helps a lot.
Tell me, how did you learn so much of this stuff/what is your medical education background!?
I am just a poor (knowledge wise) 2nd year medical student.
Thank you for your great explanations once again!
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| Renegade
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First of all, sorry for replying on the liver question @ the anatomy forum... I didn't know mdwannabe had already provided the correct answer here  .
About the fact that girls
"mdwannabe" wrote:
(...)do get the disease, but in milder form and much later in life
, that is of course involved with a phenomenon that never stops to amaze me: the one discovered by Mary Lyon in the 1960's.
Since some sick X cromossomes are «silenced» and others aren't, in most major metabolic diseases women aren't affected. However, in, let's call them structural diseases, women may suffer some symptons. In women with hemophilia A, some liver cells are unable to make factor VIII, but since the others are able to compensate, there are no symptons. :shock: In Alport, however, a minor amount of affected cells wouldn't cause problems until... later on in their life, just here and there. And yes, I would be expecting some women to be affected much sooner and in more severe ways than others. :!:
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| namf
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That IS cool Renegade--thanks for explaining that!
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