Familial renal amyloidosis is a form of
amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. These include fatigue, peripheral edema, weight ...
primarily presenting in the
kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood ...
.
It is associated most commonly with congenital mutations in the
fibrinogen alpha chain
Fibrinogen alpha chain is a protein that in humans is encoded by the ''FGA'' gene.
Function
The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein composed of three pairs of nonidentical polypeptide c ...
and classified as a dysfibrinogenemia (see
Hereditary Fibrinogen Aα-Chain Amyloidosis).
and, less commonly, with congenital mutations in
apolipoprotein A1 and
lysozyme.
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.
References
External links
Glomerular diseases
Amyloidosis
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