中国遗传性转甲状腺素蛋白淀粉样变性患者的临床表型和遗传特征。
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
机构信息
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Department of International Medical Service, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
出版信息
Orphanet J Rare Dis. 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9.
BACKGROUND
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.
METHODS
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.
RESULTS
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), χ = 26.885, P < 0.001).
CONCLUSIONS
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.
背景
遗传性转甲状腺素蛋白淀粉样变性（hATTR）是一种具有异质性临床表现、有限诊断和预后不良的进行性致命疾病。本回顾性分析研究旨在通过系统综述已发表的文献，报告中国遗传性转甲状腺素蛋白淀粉样变性（hATTR）的基因型和表型。
方法
系统综述包括对以下在线参考数据库中 2007 年至 2020 年发表的同行评议文献进行结构化搜索：PubMed、Web of Science 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、自然病程、家族史）、突变类型、临床里程碑和死亡原因。
结果
我们通过对 30 项研究的系统综述，描述了 126 例中国遗传性转甲状腺素蛋白淀粉样变性患者。中国人群最常见的基因型是 Gly83Arg（25 例，19.8%），这种基因型很可能表现为视觉和神经异常，且无死亡报告。第二和第三种最常见的基因型是 Val30Met（20 例，15.9%）和 Val30Ala（10 例，7.9%）。126 例患者中，外周神经表现（91 例，72%）占主导地位。其次是自主神经功能障碍（73 例，58%）。一半的病例报告有视力障碍，近三分之一的病例有心脏异常。在所有报告的 126 例患者中，46.03%被归类为神经型，30.16%为混合型，只有 2.38%为心脏型。此外，中国患者多为早发性，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。有心脏受累的患者生存期较短（对数秩（Mantel-Cox）检验，χ²=26.885，P<0.001）。
结论
本研究关注的是从文献综述中获得的 126 例中国 hATTR 患者。共发现 26 种 TTR 突变，最常见的是 Gly83Arg。表型方面，46.03%为神经型，30.16%为混合型，仅 2.38%为心脏型。中国 hATTR 患者多为早发性（AO 41.8 岁），从发病到死亡的中位时间为 7.5 年。
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