遗传性转甲状腺素蛋白淀粉样变性(hATTR)是一种进行性和致命性疾病,具有异质性临床表现,诊断有限,预后不良。这项回顾性分析研究旨在通过对已发表文献的系统回顾,报道中国遗传性甲状腺素运载蛋白淀粉样变性(hATTR)的基因型和表型。
系统评价包括对2007年至2020年发布的以下在线参考数据库的同行评审文献的结构化搜索:PubMed,WebofScience和中国文献数据库。提取的数据包括样本量,个人信息(性别,年龄,自然课程,家族史),突变类型,临床里程碑和死亡原因。
通过对30项研究的系统评价,我们描述了126例中国遗传性甲状腺素运载蛋白淀粉样变性患者。中国人群中最常见的基因型是Gly83Arg(25,19.8%),最有可能出现视觉和神经系统异常而没有报告死亡。第二和第三最常见的基因型是Val30Met(20,15.9%)和Val30Ala(10,7.9%)。126例患者以周围神经表现为主(91例,72%)。随后的表现是自主神经异常(73,58%)。据报道,一半的病例有视觉障碍,近三分之一的病例表现为心脏异常。在所有126名报告的患者中,46.03%被归类为神经型,混合型为30.16%,心型仅为2.38%。此外。中国患者大多是早发型,发病年龄为41.8(SD:8.9)岁,从发病到死亡的中位时间为7.5[IQR:5.3]年。心脏受累患者的生存期较短(logRank(Mantel-Cox),χ2=26.885,P<0.001)。
本研究集中于从文献综述中获得的126名中国人hATTR患者。共发现26种TTR突变,最常见的是Gly83Arg。至于表型,46.03%被归类为神经型,混合型为30.16%,心型仅为2.38%。中国人的hATTR患者多为早发性(AO41.8岁),从发病到死亡的中位时间为7.5年.
Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical presentations, limited diagnosis and poor prognosis. This retrospective analysis study aimed to report the genotypes and phenotypes of herediary transthyretin amyloidosis (hATTR) in Chinese through a systematic review of published literature.
The systematic review included structured searches of peer-reviewed literature published from 2007 to 2020 of following online reference databases: PubMed, Web of Science and the literature database in
China. Extracted data included sample size, personal information (sex, age, natural course, family history), mutation type, clinical milestones and reason of death.
We described 126 Chinese patients with hereditary transthyretin amyloidosis identified through a systematic review of 30 studies. The most common genotype in the Chinese population was Gly83Arg (25, 19.8%), which most likely presented visual and neurological abnormalities without reported death. The second and third most common genotypes were Val30Met (20, 15.9%) and Val30Ala (10, 7.9%). Peripheral neurological manifestations (91, 72%) were dominant in 126 patients. The followed manifestation was autonomic neurological abnormalities (73, 58%). Half of the cases were reported to have visual disorders, and nearly one-third of the cases presented cardiac abnormalities. Among all 126 reported patients, 46.03% were classified as neurological type, 30.16% as mixed type and only 2.38% as cardiac type. In addition. Chinese patients were mostly early onset, with age of onset at 41.8 (SD: 8.9) years, and the median time from onset to death was 7.5 [IQR: 5.3] years. Patients with cardiac involvement had a shorter survival duration (log Rank (Mantel-Cox), χ2 = 26.885, P < 0.001).
This study focused on 126 Chinese hATTR patients obtained from a literature review. A total of 26 kinds of TTR mutations were found and the most common one was Gly83Arg. As for phenotype, 46.03% were classified as neurological type, 30.16% as mixed type and only 2.38% as cardiac type. Chinese hATTR patients were mostly early onset (AO 41.8 years), and the median time from onset to death was 7.5 years.