Article
Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2013
Haidinger Michael, Werzowa Johannes, Kain Renate, Antlanger Marlies, Hecking Manfred, Pfaffenberger Stefan, Mascherbauer Julia, Gremmel Thomas, Gilbertson Janet A, Rowczenio Dorota, Weichhart Thomas, Kopecky Chantal, Hörl Walter H, Hawkins Philip N, Säemann Marcus D
Abstract excerpt
BACKGROUND: Hereditary amyloidosis with predominant renal disease can be caused by mutations in the gene encoding the fibrinogen Aα-chain (AFib). Here, we describe the clinical course of AFib amyloidosis associated with the rare R554L mutation, and the significance of extrarenal amyloid deposits and their possible influence on cardiovascular morbidity. METHODS: We report on 101 members of a family after having...
Topics
- Aged
- Amyloid
- Amyloidosis, Familial
- Cardiovascular Diseases
- Female
- Fibrinogen
- Humans
- Kidney Diseases
- Kidney Transplantation