منابع مشابه
Liver replacement for alpha1-antitrypsin deficiency.
A 16-year-old girl with advanced cirrhosis and severe alpha 1-antitrypsin deficiency of the homozygous Pi ZZ phenotype was treated by orthotopic liver transplantation. After replacement of the liver with a homograft from a donor with the normal Pi MM phenotype, the alpha 1-antitrypsin concentration in the recipient's serum rose to normal; it had the Pi MM phenotype. Two and a third years later,...
متن کاملAlpha1-antitrypsin deficiency with M-like phenotype.
A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguished from M-alpha1-antitrypsin, when it occurs with M in heterozygotes. The proposita has severe air...
متن کاملAlpha1-antitrypsin deficiency, cirrhosis and emphysema
Emphysema is a chronic progressive lung disease characterised by abnormal permanent enlargement of airspaces as a result of destruction of alveolar walls. Most patients develop emphysema as a consequence of smoking but 1–2% of patients with emphysema develop the condition as a result of a genetic deficiency of the plasma proteinase inhibitor á1-antitrypsin. The two common deficiency variants of...
متن کاملAlpha1-antitrypsin deficiency: a clinical-genetic overview
Severe α1-antitrypsin deficiency (AATD) is an inherited disorder, leading to development of emphysema in smokers at a relatively young age with disability in their forties or fifties. The emphysema results from excessive elastin degradation by neutrophil elastase as a result of the severe deficiency of its major inhibitor α1-antitrypsin (AAT). The AAT expression is determined by the SERPINA1 ge...
متن کاملDistinguishing alpha1-antitrypsin deficiency from asthma.
OBJECTIVE To explore the relations that exist between α1-antitrypsin deficiency (AATD) and asthma and to evaluate practices for screening patients with asthma for this genetically determined condition in the context of current guidelines. DATA SOURCES English-language articles were selected from a PubMed search using combinations of the following search terms: alpha1-antitrypsin, screening, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2020
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmra1910234