Introduction and interpretation of European clinical management guidelines for Alstr?m syndrome in 2020
10.3760/cma.j.cn101070-20201228-01962
- VernacularTitle:2020年欧洲Alstr?m综合征临床管理指南介绍及解读
- Author:
Qianwen ZHANG
1
;
Yu DING
;
Guoying CHANG
;
Lijun FU
;
Hong LIU
;
Jian WANG
;
Yu JIAO
;
Xiumin WANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心内分泌代谢科 200127
- Keywords:
Alstr?m syndrome;
ALMS1 gene;
Guideline
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(13):961-965
- CountryChina
- Language:Chinese
-
Abstract:
Alstr?m syndrome is a rare multisystem genetic disease caused by mutations in the ALMS1 gene.Both of its clinical diagnosis and treatment are very difficult.In 2020, the Consensus Clinical Management Guidelines for Alstr?m Syndrome, developed with the participation of many countries, was published in the Orphanet Journal of Rare Diseases.A systematic literature review on Alstr?m syndrome of the last 45 years until October 2019 was carried out and then the clinical management guideline for Alstr?m syndrome was proposed.In this report, the contents of the 2020 European guideline for Alstr?m syndrome would be introduced briefly with appropriate interpretation in order to provide reference.
