title: Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation.
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.
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington; and nandeen@u.washington.edu.
authors.forename: Nicole K
authors.initials: NK
authors.lastname: Andeen
authors.affiliation: Hospital and Specialty Medicine Service and.
authors.forename: Daniel Y
authors.initials: DY
authors.lastname: Lam
authors.affiliation: Hospital and Specialty Medicine Service and.
authors.forename: Ian H
authors.initials: IH
authors.lastname: de Boer
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington; and Pathology and Laboratory Medicine Service, Veterans Affairs Puget Sound Health Care System, Seattle, Washington.
authors.forename: Roberto F
authors.initials: RF
authors.lastname: Nicosia
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000378:metabolism* / Q000473:pathology; D016632:Apolipoprotein A-I / Q000378:metabolism*; D001706:Biopsy; D018698:Glutamic Acid / Q000737:chemistry*; D006801:Humans; D007150:Immunohistochemistry; D007248:Infertility, Male / Q000150:complications; D007668:Kidney / Q000473:pathology; D008055:Lipids / Q000737:chemistry*; D008239:Lysine / Q000737:chemistry*; D008297:Male; D008856:Microscopy, Fluorescence; D009154:Mutation; D012708:Sertoli Cells / Q000473:pathology; D013737:Testis / Q000473:pathology
chemical_list: D016632:Apolipoprotein A-I; D008055:Lipids; D018698:Glutamic Acid; D008239:Lysine
keywords: amyloidosis; apolipoprotein A-1; hereditary; lipid