Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation

J Am Soc Nephrol. 2014 Dec;25(12):2703-5. doi: 10.1681/ASN.2013060651. Epub 2014 Jun 12.

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.

Keywords: amyloidosis; apolipoprotein A-1; hereditary; lipid.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloidosis / metabolism*
  • Amyloidosis / pathology
  • Apolipoprotein A-I / metabolism*
  • Biopsy
  • Glutamic Acid / chemistry*
  • Humans
  • Immunohistochemistry
  • Infertility, Male / complications
  • Kidney / pathology
  • Lipids / chemistry*
  • Lysine / chemistry*
  • Male
  • Microscopy, Fluorescence
  • Mutation*
  • Sertoli Cells / pathology
  • Testis / pathology

Substances

  • Apolipoprotein A-I
  • Lipids
  • Glutamic Acid
  • Lysine