[A preemptive combined liver-kidney transplantation in Aalpha fibrinogen chain renal amyloidosis].
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.
Delabre
Jean-Philippe
JP
Service de néphrologie, transplantation et dialyse péritonéale, hôpital Lapeyronie, 371, avenue G-Giraud, 34295 Montpellier cedex 05, France.
Pageaux
Georges-Philippe
GP
Le Quellec
Alain
A
Raynaud
Pierre
P
Grateau
Gilles
G
Mourad
Georges
G
D000328:Adult; D028226:Amyloidosis, Familial / Q000150:complications* / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation; D016031:Liver Transplantation; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D055502:Secondary Prevention
C464794:fibrinogen Aalpha; D005340:Fibrinogen