Testing for diagnosing alpha-1 antitrypsin deficiency is generally accurate. Although no single type of AAT test is perfectly accurate, the combination of test methods enables AAT deficiency to be effectively identified with high levels of confidence. Do I need follow-up tests? If you have an ini...
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises...
Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. These proteinases are associated with cardiovascular disease (CVD) in the general population. It...
Currently, the measurement of alpha-1 antitrypsin levels is recommended in all patients with chronic obstructive pulmonary disease (COPD) regardless of age and severity of the disease [2]. However, this test is rarely requested, and no studies have been carried out in Colombia to determine the ...
Alpha-1 antitrypsin deficiency associated liver disease (AATD-LD) is a rare genetic disorder and not well-recognized. Predicting the clinical outcomes of AATD-LD and defining patients more likely to progress to advanced liver disease are crucial for better understanding AATD-LD progression and promoti...
This study aimed to identify if individuals with mild to severe alpha-1 antitrypsin deficiency (AATD) are at higher risk for developing obstructive sleep apnea (OSA) than the general population. Methods A seven-question sleep apnea risk assessment questionnaire, STOP-BAG, was applied to 2338 part...
The average lifetime exposures to air pollution were significantly different between the two regions. Significant effects of the region were observed on IgM, IL-6, 8-isoprostane, and alpha-1-antitrypsin levels. The strongest positive association was observed between 8-isoprostane levels and benzene,...
COVID-19;respiratory function tests;alpha-1 antitrypsin;long-term follow-up 1. Introduction The term “Post-COVID-19 conditions” defined by the World Health Organization (WHO) and the Center for Disease Control and Prevention (CDC) is currently used to refer to continuous or new persistent sy...
Individuals homozygous for the Pi*Z allele of SERPINA1 (ZAAT) are susceptible to lung disease due to insufficient α1-antitrypsin secretion into the circulation and may develop liver disease due to compromised protein folding that leads to inclusion body formation in the endoplasmic reticulum (ER) ...
alpha-1 antitrypsin deficiency;COPD;hypoxia;neutrophil;rare respiratory diseases;liver 2. Materials and Methods 2.1. Study Design Fifty-four children diagnosed with AATD (31 MZ; 8 SZ; and 15 ZZ) and seven healthy volunteers were recruited from the Pediatrics Units of the Hospital Clínico Universit...