Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene.

Abstract

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.

• Authors: C Mousson, B Heyd, E Justrabo, J-M Rebibou, Y Tanter, J-P Miguet, G Rifle
• Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons (Am J Transplant) Vol. 6 Issue 3 Pg. 632-5 (Mar 2006) ISSN: 1600-6135 [Print] United States
• PMID: 16468976 (Publication Type: Case Reports, Journal Article)

Chemical References

• fibrinogen Aalpha
• Fibrinogen
• DNA

Topics

• Adult
• Amyloidosis, Familial (genetics, pathology, surgery)
• Biopsy
• DNA (genetics)
• Fibrinogen (genetics)
• Follow-Up Studies
• Frameshift Mutation
• Humans
• Kidney Transplantation (methods, pathology)
• Liver Transplantation (methods, pathology)
• Male