Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene.
Hereditary systemic amyloidosis comprises several autosomal dominant diseases caused by mutations in a number of plasma proteins, including the fibrinogen Aalpha-chain. Four mutations in the fibrinogen Aalpha-chain that are able to induce amyloidosis have been identified so far, the most common being the Glu526Val mutation. We have observed a family in which the father and his son reached end-stage renal failure because of renal amyloidosis induced by a frame-shift mutation in the fibrinogen Aalpha-chain gene producing a novel amyloid protein. Two kidney transplantations in the father and one in the son resulted in fast graft loss caused by recurrence of amyloid deposition. We then performed hepatorenal transplantation in the son. Three years later, liver and kidney functions are normal without recurrence of amyloid deposition. This case, together with three others with the Glu526Val mutation in the extensive literature, suggests that liver transplantation can cure hereditary fibrinogen amyloidosis, whatever the mutation may be.
Department of Nephrology-Intensive Care-Transplantation, University Hospital, Dijon, France.
C
C
Mousson
B
B
Heyd
E
E
Justrabo
J-M
JM
Rebibou
Y
Y
Tanter
J-P
JP
Miguet
G
G
Rifle
D000328:Adult; D028226:Amyloidosis, Familial / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D005340:Fibrinogen / Q000235:genetics*; D005500:Follow-Up Studies; D016368:Frameshift Mutation; D006801:Humans; D016030:Kidney Transplantation / Q000379:methods* / Q000473:pathology; D016031:Liver Transplantation / Q000379:methods* / Q000473:pathology; D008297:Male
C464794:fibrinogen Aalpha; D005340:Fibrinogen; D004247:DNA