Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case report
Copyright policy )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.
- University of Adelaide Australia
- Boston Children's Hospital United States
- Flinders Medical Centre Australia
- University of Western Australia Australia
- Women's and Children's Hospital Australia
Adult, Family Health, Male, Amyloid Neuropathies, Familial, Alanine, Genotype, Proline, Amyloid Neuropathies, Liver Transplantation, Familial, Fatal Outcome, Treatment Outcome, Mutation, Humans, Prealbumin, Female
Adult, Family Health, Male, Amyloid Neuropathies, Familial, Alanine, Genotype, Proline, Amyloid Neuropathies, Liver Transplantation, Familial, Fatal Outcome, Treatment Outcome, Mutation, Humans, Prealbumin, Female
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