Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.
Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.
复制标题
中国转甲状腺素蛋白相关家族性淀粉样多发性神经病的临床和遗传学特征
DOI：
10.1097/cm9.0000000000001094
复制
发表时间：
2020-11-05
影响因子：
6.1
通讯作者：
Zhang RX
中科院分区：
文献类型：
--
作者：
Liu L;Li XB;Hu ZM;Huang SX;Tang BS;Zhang RX
甲状腺素运载蛋白相关家族性淀粉样多发性神经病（TTR-FAP）是一种由TTR突变引起的常染色体显性遗传、危及生命且可治疗的疾病。其特征是淀粉样蛋白沉积在周围神经和主要器官，包括心脏，肾脏和眼睛。到目前为止，已经确定了超过130种TTR突变，其中p.Val30Met在流行国家最常见。TTR-FAP已在29个国家报告，包括欧洲、美国、日本、中国和印度的许多国家。TTR-FAP的临床和遗传学特征在欧洲和日本已较为明确，但在我国尚需开展。本文报道了8个TTR-FAP家系的临床和遗传学特征。
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant, life-threatening, and treatable disorder caused by TTR mutation. It is characterized by amyloid deposition in the peripheral nerves and major organs, including the heart, kidneys, and eyes. So far, more than 130 TTR mutations have been identified, in which p.Val30Met is the most common in endemic countries. TTR-FAP has been reported in 29 countries, including many countries in Europe, USA, Japan, China, and India. Clinical and genetic features of TTR-FAP are relatively clear in Europe and Japan, however, it still need to be carried out in China. Here, we reported the clinical and genetic features of 8 Chinese TTR-FAP families.