Genetic Testing of Minors for Alpha1-Antitrypsin Deficiency
نویسندگان
چکیده
منابع مشابه
Alpha1-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 کاملGenetic Testing for Alpha-1 Antitrypsin Deficiency
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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 کاملIsoelectric 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 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: Archives of Pediatrics & Adolescent Medicine
سال: 2006
ISSN: 1072-4710
DOI: 10.1001/archpedi.160.5.531