Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
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.
Muller
Kate R
KR
South Australian Liver Transplant Unit, Flinders Medical Centre, Bedford Park, South Australia, Australia. katermuller@yahoo.com.au
Padbury
Robert
R
Jeffrey
Gary P
GP
Poplawski
Nicola K
NK
Thompson
Philip
P
Tonkin
Anne
A
Harley
Hugh A J
HA
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
D011228:Prealbumin; D011392:Proline; D000409:Alanine