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, weigh ...
primarily presenting in the
kidney
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and rig ...
.
It is associated most commonly with congenital mutations in the
fibrinogen alpha chain and classified as a dysfibrinogenemia (see
Hereditary Fibrinogen Aα-Chain Amyloidosis).
and, less commonly, with congenital mutations in
apolipoprotein A1 and
lysozyme
Lysozyme (, muramidase, ''N''-acetylmuramide glycanhydrolase; systematic name peptidoglycan ''N''-acetylmuramoylhydrolase) is an antimicrobial enzyme produced by animals that forms part of the innate immune system. It is a glycoside hydrolase ...
.
It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.
References
Further reading
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External links
Glomerular diseases
Amyloidosis
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