Alpha1-antitrypsin deficiency: incidence and detection program
نویسندگان
چکیده
منابع مشابه
Isoelectric Focusing and PCR-RFLP Joined Techniques for Alpha1-antitrypsin Deficiency Detection
53 persons suspected to alpha1-antitrypsin deficiency detection (AATD) were investigated for ZZ, MZ, ZS, SS, and MS alleles analysis by serum protein electrophoresis (SPE), measurement of trypsin inhibiting capacity (TIC), isoelectric focusing (IEF), polymerase chain reaction (PCR), and IEF/PCR-RFLP techniques. The result clearly shows by using SPE and TIC techniques only 35.85 % and 50.08% of ...
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 کاملHow Can We Improve the Detection of Alpha1-Antitrypsin Deficiency?
The Z deficiency in α1-antitrypsin (A1ATD) is an under-recognized condition. Alpha1-antitrypsin (A1AT) is the main protein in the α1-globulin fraction of serum protein electrophoresis (SPE); however, evaluation of the α1-globulin protein fraction has received very little attention. Serum Z-type A1AT manifests in polymeric forms, but their interference with quantitative immunoassays has not been...
متن کاملLiver 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...
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ژورنال
عنوان ژورنال: Respiratory Medicine
سال: 2000
ISSN: 0954-6111
DOI: 10.1053/rmed.2000.0854