title: Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
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.
authors.affiliation: South Australian Liver Transplant Unit, Flinders Medical Centre, Bedford Park, South Australia, Australia. katermuller@yahoo.com.au
authors.forename: Kate R
authors.initials: KR
authors.lastname: Muller
authors.forename: Robert
authors.initials: R
authors.lastname: Padbury
authors.forename: Gary P
authors.initials: GP
authors.lastname: Jeffrey
authors.forename: Nicola K
authors.initials: NK
authors.lastname: Poplawski
authors.forename: Philip
authors.initials: P
authors.lastname: Thompson
authors.forename: Anne
authors.initials: A
authors.lastname: Tonkin
authors.forename: Hugh A J
authors.initials: HA
authors.lastname: Harley
mesh_terms: D000328:Adult; D000409:Alanine / Q000737:chemistry*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000628:therapy*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D016031:Liver Transplantation / Q000379:methods; D008297:Male; D009154:Mutation; D011228:Prealbumin / Q000737:chemistry / Q000235:genetics*; D011392:Proline / Q000737:chemistry*; D016896:Treatment Outcome
chemical_list: D011228:Prealbumin; D011392:Proline; D000409:Alanine