Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.

ABSTRACT:

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

SUBMITTER: He X 

PROVIDER: S-EPMC9438301 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature