Hereditární transthyretinová amyloidóza s polyneuropatií - současné možnosti diagnostiky a léčby
| Title in English | Hereditary transthyretin amyloidosis with polyneuropathy - current diagnostic and treatment options |
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| Authors | |
| Year of publication | 2022 |
| Type | Article in Periodical |
| Magazine / Source | Farmakoterapeutická revue |
| MU Faculty or unit | |
| Citation | |
| Web | https://farmakoterapeutickarevue.cz/cs/hereditarni-transthyretinova-amyloidoza-s-polyneuropatii-soucasne-moznosti-diagnostiky-a-lecby |
| Keywords | amyloid; transthyretin; hereditary amyloidosis; familial amyloid neuropathy; cardiomyopathy |
| Description | Hereditary transthyretin amyloidosis (ATTRv) is a serious progressive multisystem disease caused by the mutation in the prealbumin (transthyretin, TTR) gene. Particular mutations are associated with either cardiac or neurological manifestations. The latter mainly presents with axonal sensorymotor polyneuropathy with frequent and serious autonomic symptoms. The diagnosis is confirmed by genetic or histopathologic methods. Besides symptomatic therapy, liver transplantation has historically been the standard of care in the treatment of ATTRv. In the last decade, TTR stabilizers and TTR gene silencers have been approved for the treatment of this serious and lifethreatening disease. |
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