Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24925720.
- Also identified by DOI 10.1681/ASN.2013060651 and PMC identifier 4243342.
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Abstract
Apolipoprotein A-1 (ApoA-1) amyloidosis occurs as a nonhereditary condition in atherosclerotic plaques, but it can also manifest as a hereditary disorder caused by mutations of the APOA1 gene. Hereditary ApoA-1 amyloidosis presents with diverse organ involvement based on the position of the mutation. We describe a case of ApoA-1 amyloidosis with a Glu34Lys mutation; testicular, conjunctival, and renal involvement; and the notable finding of lipid deposition within the amyloid deposits.
Medical subject headings
- Amyloidosis
- Apolipoprotein A-I
- Glutamic Acid
- Lipids
- Lysine
- Mutation