منابع مشابه
α1-Antitrypsin deficiency: count me in please!
Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expecte...
متن کاملCirculating polymers in α1-antitrypsin deficiency.
Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...
متن کاملMolecular Mechanism of Z α1-Antitrypsin Deficiency*
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes intracellular polymerization of nascent Z α1-AT and why 15% of the expressed Z α1-AT is secreted in...
متن کاملAugmentation treatment for α1 antitrypsin deficiency.
www.thelancet.com Published online May 28, 2015 http://dx.doi.org/10.1016/S0140-6736(15)60036-8 1 α1 antitrypsin is a serine antiprotease secreted by the liver. Its main function is inhibition of neutrophil elastase, a non-specifi c protease released by activated or dying neutrophils. In individuals with healthy concentrations of α1 antitrypsin, the fragile alveolar structures of the lung paren...
متن کاملAppropriateness of Newborn Screening for α1-Antitrypsin Deficiency
OBJECTIVE The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS A review of natural history and technical data was conducted. RESULTS Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT defic...
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ژورنال
عنوان ژورنال: Breathe
سال: 2018
ISSN: 1810-6838,2073-4735
DOI: 10.1183/20734735.015018