Alpha-1-antitrypsin deficiency
10.3760/cma.j.issn.2095-428X.2018.04.011
- VernacularTitle:α1-抗胰蛋白酶缺乏症
- Author:
Yong YIN
1
;
Shuhua YUAN
Author Information
1. 国家儿童医学中心/上海交通大学医学院附属上海儿童医学中心呼吸科
- Keywords:
Alpha-1-antitrypsin deficiency;
Chronic liver disease;
Lung disease;
SERPINA1 gene;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):282-285
- CountryChina
- Language:Chinese
-
Abstract:
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic metabolic disease,characterized by a lack of alpha-1-antitrypsin,which can lead to chronic lung and liver disease.The lung disease is thought to be caused primarily by a lack of effective protection against the harmful effects of elastase due to the low AAT levels in the lung.Patients may also develop liver disease due to polymerisation of AAT within hepatocytes.Measuring the AAT serum level,AAT protein phenotyping,and SERPINA1 allele genotyping can help to diagnose AATD.The prognosis of AATD has been improved by AAT augmentation therapy in patients with lung disease,which can prevent or delay lung tissue destruction.
