Transthyretin amyloid polyneuropathy
10.3760/cma.j.cn113694-20240118-00038
- VernacularTitle:转甲状腺素蛋白淀粉样变性多发性神经病
- Author:
Junhong GUO
1
;
Zhuoran WANG
Author Information
1. 山西医科大学第一医院神经内科，太原 030001
- Keywords:
Amyloid neuropathies, familial;
Transthyretin;
Peripheral nervous system diseases;
Genetics
- From:
Chinese Journal of Neurology
2024;57(5):497-503
- CountryChina
- Language:Chinese
-
Abstract:
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.
