| Autor: |
Kopishinskaya SV; Federal State Budget Educational Establishment of Higher Education Nizhny Novgorod State Medical Academy of the Ministry of Public Health of the Russian Federation, Nizhny Novgorod, Russia. |
| Jazyk: |
ruština |
| Zdroj: |
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2018; Vol. 118 (10), pp. 82-89. |
| DOI: |
10.17116/jnevro201811810182 |
| Abstrakt: |
Transthyretin family amyloid polyneuropathy (TTR-FAP) is a progressive, ultimately fatal disease. It manifests itself primarily with sensory, motor and autonomic polyneuropathy and/or cardiomyopathy and is caused by extracellular deposition of insoluble amyloid fibrils in the endoneurium. The cause of TTR-FAP is the mutation in the gene encoding transthyretin, more than 100 types of mutations are known. Given the phenotypic diversity of TTR-FAP, it is difficult for clinicians to make this diagnosis. An erroneous diagnosis is a frequent occurrence, risking the onset of an organ pathology. The paper addresses the issues of the pathogenesis, diagnosis and treatment of TTR-FAP. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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