| Autor: |
Ball, Harriet A, Stevens, James C, Gillmore, Julian D |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Zdroj: |
Ball, H A, Stevens, J C & Gillmore, J D 2023, ' Peripheral neuropathy secondary to a ‘domino’ liver transplant : a case report ', Journal of Medical Case Reports, vol. 17, no. 1, 291 . https://doi.org/10.1186/s13256-023-04001-0 |
| DOI: |
10.1186/s13256-023-04001-0 |
| Popis: |
BackgroundPeripheral neuropathy caused by amyloidosis is one of the well-recognised sequelae of mutations in the transthyretin gene (TTR).Case presentationWe describe a case of peripheral neuropathy in a White British 74 year old man with wild-type TTR, 8 years following receipt of a ‘domino’ liver transplant (from a donor with a TTR mutation). The clinical phenotype and neurophysiology, coupled with presence of ATTR amyloid deposits on fat biopsy, established the diagnosis of ATTR amyloid neuropathy, as a consequence of receipt of a variant-TTR secreting liver. A nerve biopsy was not clinically appropriate for this patient. Such cases are rare since recipients of such livers are typically restricted to people whose natural lifespan is unlikely to stretch into the anticipated symptomatic period of ATTR amyloidosis. However, novel “gene silencing” therapeutics are now available which can dramatically alter the course of this disorder, by reducing the proportion of abnormal proteins.ConclusionsThis represents a rare but predictable iatrogenic side effect, and doctors should be aware of this eventuality occurring in a shorter time span than previously anticipated. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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