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Type: Journal article
Title: Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case report
Author: Muller, K.
Padbury, R.
Jeffrey, G.
Poplawski, N.
Thompson, P.
Tonkin, A.
Harley, H.
Citation: Liver Transplantation, 2010; 16(4):470-473
Publisher: W B Saunders Co
Issue Date: 2010
ISSN: 1527-6465
Department: Medicine Learning and Teaching Unit
Statement of
Kate R. Muller, Robert Padbury, Gary P. Jeffrey, Nicola K. Poplawski, Philip Thompson, Anne Tonkin and Hugh A. J. Harley
Abstract: Transthyretin amyloid polyneuropathy, caused by mutations in the transthyretin gene, is a progressive condition for which liver transplantation is an established treatment. Favorable outcomes have been described in patients with the most common transthyretin mutation, Val30Met, but outcomes have been variable in patients with other mutations. We describe the cases of 2 siblings with transthyretin amyloid polyneuropathy secondary to an infrequently reported transthyretin mutation (Ala36Pro) who underwent liver transplantation with poor outcomes.
Keywords: Humans; Amyloid Neuropathies, Familial; Alanine; Proline; Prealbumin; Treatment Outcome; Liver Transplantation; Fatal Outcome; Genotype; Mutation; Adult; Family Health; Female; Male
Rights: Copyright © 2010 American Association for the Study of Liver Diseases
RMID: 0020096586
DOI: 10.1002/lt.22019
Appears in Collections:Medicine publications

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