Liver Disease and Intermediate α1-Antitrypsin Deficiency
نویسندگان
چکیده
منابع مشابه
Flecainide 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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Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...
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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...
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ژورنال
عنوان ژورنال: Acta Medica Scandinavica
سال: 2009
ISSN: 0001-6101
DOI: 10.1111/j.0954-6820.1981.tb09809.x