Alpha-1 Antitrypsin Deficiency | 合法醫療器材資訊網

由JKStoller著作·2017·被引用916次—Alpha-1antitrypsindeficiency(AATD)canpresentwithhepaticdysfunctioninindividualsfrominfancytoadulthoodandwithchronicobstructive ...

Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with obstructive lung disease and/or bronchiectasis, characteristically in individuals older than age 30 years. Phenotypic expression varies within and between families.

The severity of AATD depends on the genotype[1] and resultant serum alpha-1 antitrypsin (AAT) level. Individuals homozygous[2] for severe deficiency alleles (i.e., PI*ZZ) have low serum AAT levels, placing them at increased risk for chronic obstructive pulmonary disease (COPD) (see Table 4[3]). Individuals with alleles associated with intrahepatic inclusions (e.g., Z, Mmalton, Siiyama) are also at increased risk of developing liver disease.

Under-recognition of AATD often causes a long delay between first symptoms and initial diagnosis of AATD (i.e., 5-7 years) and many i...