[A preemptive combined liver-kidney transplantation in Aalpha fibrinogen chain renal amyloidosis].

Abstract

The predominant cause of hereditary renal amyloidosis is a mutation of the fibrinogen Aalpha chain (AFib), the most common being the E526V mutation. The evolution towards terminal renal insufficiency is constant and raises the question of renal transplantation and the risk of recurrence. We describe the case of a Portuguese woman with the E526V mutation without any renal or hepatic history in her family which developed a nephrotic syndrome at the age of 35, followed by stage 5 renal insufficiency. Because of the risk of recurrence of amyloidosis on its transplant, we carried out a combined transplantation liver-kidney despite the absence of clinical or biological hepatic abnormalities. Four years later, the result is excellent and there is no sign of the disease on the new organs. This successful experience as well as the five other published cases of combined liver-kidney transplantation in Aalpha fibrinogen chain amyloidosis, demonstrates the feasibility and efficacy of this treatment in AFib amyloidosis.

• Authors: Jean-Philippe Delabre, Georges-Philippe Pageaux, Alain Le Quellec, Pierre Raynaud, Gilles Grateau, Georges Mourad
• Journal: Nephrologie & therapeutique (Nephrol Ther) Vol. 5 Issue 2 Pg. 139-43 (Apr 2009) ISSN: 1769-7255 [Print] France
• Vernacular Title: Transplantation préemptive foie-rein pour une amylose rénale à fibrinogène Aalpha.
• PMID: 19013120 (Publication Type: Case Reports, English Abstract, Journal Article, Review)

Chemical References

• fibrinogen Aalpha
• Fibrinogen

Topics

• Adult
• Amyloidosis, Familial (complications, genetics)
• Female
• Fibrinogen (genetics)
• Humans
• Kidney Failure, Chronic (etiology, surgery)
• Kidney Transplantation
• Liver Transplantation
• Mutation, Missense
• Pedigree
• Point Mutation
• Secondary Prevention