Update on Alpha‐1 Antitrypsin Deficiency in Liver Disease
نویسندگان
چکیده
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 and liver disease in childhood: genetic, immunochemical, histological, and ultrastructural diagnosis.
alpha(1) Antitrypsin deficiency is a significant factor in the pathogenesis of neonatal cholestasis and progressive juvenile cirrhosis. The diagnosis may be suggested by the liver biopsy appearances and confirmed by immunochemical analysis of the serum. Genetic counselling of affected families is of importance, as medical treatment is ineffective at the present time.
متن کاملalpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.
alpha1-Antitrypsin is the prototypical member of the serine proteinase inhibitor or serpin superfamily of proteins. The family includes alpha1-antichymotrypsin, C1 inhibitor, antithrombin and neuroserpin, which are all linked by a common molecular structure and the same suicidal mechanism for inhibiting their target enzymes. Point mutations result in an aberrant conformational transition and th...
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...
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ژورنال
عنوان ژورنال: Clinical Liver Disease
سال: 2020
ISSN: 2046-2484,2046-2484
DOI: 10.1002/cld.896