Transthyretin amyloid polyneuropathy is a rare progressive,autosomal dominant inherited disease that leads to death.It is caused by the deposition of amyloid-like substances formed by misfolded transthyretin protein(TTR)in the extracellular matrix of peripheral nerves,as well as in organs such as the heart,eyes,and kidneys.Its main manifestations include multiple peripheral neuropathies and autonomic dysfunction,often accompanied by myocardial damage.Clinical heterogeneity is significant among different gene mutation types.Tissue biopsy and genetic testing are the"gold standard"for diagnosing the disease.Major treatment modalities include TTR stabilizers,RNA-targeted silencing drugs,and liver transplantation.
Amyloid neuropathies,familialTransthyretinPeripheral nervous system diseasesGenetics
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