α1-Antitrypsin deficiency: count me in please!
نویسندگان
چکیده
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 کاملFlecainide and elevated liver enzymes in α1-antitrypsin deficiency
deficiency David J.A. Jenkins, MD, PhD, FRCP, Michael Freeman, MD, FRCPC, Iqwal Mangat, MD, FRCPC, Koruba Srichaikul, MD, MSc, Viranda H. Jayalath, MSc, Dorothea Faulkner, RD, PhD, John L. Sievenpiper, MD, PhD, FRCPC, Cyril W.C. Kendall, PhD, Alexander Romaschin, PhD, Young-In Kim, MD, FRCPC, Paul Dorian, MD, FRCPC, FHRS From the Department of Nutritional Sciences, Faculty of Medicine, Universi...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2017
ISSN: 0903-1936,1399-3003
DOI: 10.1183/13993003.01941-2016