A 54-year-old man presented with protein-losing enteropathy. Biopsies from the stomach, duodenum, ileum and colon showed deposits of amyloid. The bone marrow showed plasmacytosis. After an initial misdiagnosis of AA amyloid, a revised diagnosis of ALκ amyloidosis was made at an expert referral laboratory. Care must be taken in the use of antibodies and proper controls in the performance and interpretation of immunohistochemistry for amyloidosis. A wide panel of amyloid-type-specific antibodies must be used and interpreted in comparative mode to avoid misdiagnosis.
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Sci Rep
September 2023
Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, €, BC, V5A 1S6, Canada.
The formation of protein aggregates is a hallmark of many neurodegenerative diseases and systemic amyloidoses. These disorders are associated with the fibrillation of a variety of proteins/peptides, which ultimately leads to cell toxicity and tissue damage. Understanding how amyloid aggregation occurs and developing compounds that impair this process is a major challenge in the health science community.
View Article and Find Full Text PDFNephrol Dial Transplant
August 2023
Assistance Publique des Hôpitaux de Paris (AP-HP), Université Paris-Saclay, Hôpital de Bicêtre, Service de Néphrologie et Transplantation, Le Kremlin-Bicêtre, France.
Background: Cardiac and neurological involvements are the main clinical features of hereditary transthyretin (ATTRv) amyloidosis. Few data are available about ATTRv amyloid nephropathy (ATTRvN).
Methods: We retrospectively included 30 patients with biopsy-proven ATTRvN [V30M (26/30) including two domino liver recipients, S77Y (2/30), V122I (1/30) and S50R (1/30) variants] from two French reference centers.
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