Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 20, 2013 - Issue 2
236
Views
13
CrossRef citations to date
0
Altmetric
Research Article

Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature

, , , , , , , , , , , , , & show all
Pages 72-79 | Received 05 Oct 2012, Accepted 28 Feb 2013, Published online: 03 Apr 2013

References

  • Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003;6:583–96
  • Hawkins PN. Hereditary systemic amyloidosis with renal involvement. J Nephrol 2003;3:443–8
  • Picken MM. New insights into systemic amyloidosis: the importance of diagnosis of specific type. Curr Opin Nephrol Hypertens 2007;3:196–203
  • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet 1993;3:252–5
  • Picken MM, Linke RP. Nephrotic syndrome due to an amyloidogenic mutation in fibrinogen A alpha chain. J Am Soc Nephrol 2009;8:1681–5
  • Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis. J Am Soc Nephrol 2009;2:444–51
  • Stangou AJ, Banner NR, Hendry BM, Rela M, Portmann B, Wendon J, Monaghan M, et al. Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation. Blood 2010;15:2998–3007
  • Lachmann HJ, Goodman HJ, Gilbertson JA, Gallimore JR, Sabin CA, Gillmore JD, Hawkins PN. Natural history and outcome in systemic AA amyloidosis. N Engl J Med 2007;23:2361–71
  • Hamidi Asl L, Fournier V, Billerey C, Justrabo E, Chevet D, Droz D, Pecheux C, et al. Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family. Amyloid 1998;4:279–84
  • Mahmoodi BK, Matsushita K, Woodward M, Blankestijn PJ, Cirillo M, Ohkubo T, Rossing P, et al. Associations of kidney disease measures with mortality and end-stage renal disease in individuals with and without hypertension: a meta-analysis. Lancet 2012;9854:1649–61
  • K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification. Am J Kidney Dis 2002;2 Suppl 1:S1–266
  • Dember LM. Amyloidosis-associated kidney disease. J Am Soc Nephrol 2006;12:3458–71
  • Odabas AR, Cetinkaya R, Selcuk Y, Bilen H. Effect of losartan treatment on the proteinuria in normotensive patients having proteinuria due to secondary amyloidosis. Ups J Med Sci 2001;3:183–8
  • Dilek K, Usta M, Ersoy A, Ozdemir B, Yavuz M, Gullulu M, Yurtkuran M. Long-term effects of losartan on proteinuria and renal function in patients with renal amyloidosis. Scand J Urol Nephrol 2002;6:443–6
  • Dember LM, Hawkins PN, Hazenberg BP, Gorevic PD, Merlini G, Butrimiene I, Livneh A, et al. Eprodisate for the treatment of renal disease in AA amyloidosis. N Engl J Med 2007;23:2349–60
  • Bodin K, Ellmerich S, Kahan MC, Tennent GA, Loesch A, Gilbertson JA, Hutchinson WL, et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010;7320:93–7
  • Gillmore JD, Tennent GA, Hutchinson WL, Gallimore JR, Lachmann HJ, Goodman HJ, Offer M, et al. Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis. Br J Haematol 2010;5:760–7
  • Zeldenrust S, Gertz M, Uemichi T, Bjornsson J, Wiesner R, Schwab T, Benson M. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003;4:560–1
  • Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. QJM 2000;5:269–75
  • Stangou AJ, Lobato L, Zeldenrust S, Rela M, Portmann B, Linke RP, Conceicao I, et al. Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. Amyloid 2012;19:81–4
  • Peng S, Larsson A, Wassberg E, Gerwins P, Thelin S, Fu X, Westermark P. Role of aggregated medin in the pathogenesis of thoracic aortic aneurysm and dissection. Lab Invest 2007;12:1195–205

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.