amyloid

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Related to Hereditary amyloidosis: Hereditary hemochromatosis, ATTR amyloidosis

amyloid

[′am·ə‚lȯid]
(pathology)
An abnormal protein deposited in tissues, formed from the infiltration of an unknown substance, probably a carbohydrate.
References in periodicals archive ?
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
[6] Nonstandard abbreviations: ATTR, transthyrefin-associated hereditary amyloidosis; TTR, transthyrefin; MS, mass spectrometry; PBS, phosphate-buffered saline; TCEP, tris(2-carboxyethyl)phosphine; [T.sub.m], melting temperature; and SCA, senile cardiac amyloidosis.
Hereditary amyloidosis is caused by deposition of genetically variant proteins and is associated with mutations in the genes for either transthyretin, apolipoprotein AI, apolipoprotein AII, lysozyme, or fibrinogen A.95-111 Until the amyloid fibril proteins and their precursors were identified, familial amyloidosis was classified by clinical and pathologic phenotype.96 Whereas several of the familial disorders are distinctly neuropathic or cardiopathic, virtually all of them can affect kidneys, although in some of these amyloidoses, renal deposits may be clinically silent.
However, DNA analysis is mandatory to confirm a diagnosis of hereditary amyloidosis based on identification of the protein type present in amyloid deposits (please see later).
ATTR is the most common form of hereditary amyloidosis. Although the age at onset and the phenotype may vary between different kinships, most include polyneuropathy, involvement of the autonomic system, or cardiomyopathy.

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