Appropriateness of Newborn Screening for α1-Antitrypsin Deficiency
نویسندگان
چکیده
منابع مشابه
Appropriateness of Newborn Screening for α1-Antitrypsin Deficiency
OBJECTIVE The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS A review of natural history and technical data was conducted. RESULTS Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT defic...
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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...
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ژورنال
عنوان ژورنال: Journal of Pediatric Gastroenterology & Nutrition
سال: 2014
ISSN: 0277-2116
DOI: 10.1097/mpg.0000000000000196