Hereditary systemic amyloidosis caused by K19T apolipoprotein C-II variant
نویسندگان
چکیده
منابع مشابه
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal insufficiency caused by a new apolipoprotein C-III variant, D25V. Despite their uremic state, the D25V-carriers exhibit low triglyceride (TG) and apolipoprotein C-III levels, and low very-lo...
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To the Editor: Systemic amyloidosis is characterized by the extracellular deposition of misfolded proteins as insoluble amyloid fibrils in various tissues. The familial forms of amyloidosis (AF) comprise a group of autosomal dominant diseases associated with mutations in a number of genes encoding amyloid precursor proteins. These diseases collectively exhibit various phenotypes, including ages...
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We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of...
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Several members of a family died from renal failure as a result of systemic amyloidosis. Extensive studies to detect previously documented gene mutations associated with amyloidosis failed to identify a causative factor. In search of the genetic basis for this syndrome, amyloid fibrils were isolated from renal tissue of a member of the kin who died while on renal dialysis. Amino acid sequencing...
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Hereditary amyloidoses are rare and pose a diagnostic challenge. We report a case of hereditary amyloidosis associated with apolipoprotein C-II deposition in a 61-year-old female presenting with renal failure and nephrotic syndrome misdiagnosed as light chain amyloidosis. Renal biopsy was consistent with amyloidosis on microscopy; however, immunofluorescence was inconclusive for the type of amy...
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ژورنال
عنوان ژورنال: Amyloid
سال: 2019
ISSN: 1350-6129,1744-2818
DOI: 10.1080/13506129.2018.1562442