Alpha-1-antitrypsin deficiency / 中华实用儿科临床杂志

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.