Topics Discussed: alpha 1-antitrypsin; alpha 1-antitrypsin deficiency; gastroenterology and hepatology.
Sections: Pathogenesis, Clinical Presentation, Differential Diagnosis, Diagnosis, Treatment, References.
Excerpt:"The classical, most common form of alpha-1-antitrypsin (a1AT)
deficiency is caused by homozygosity (ZZ) for the autosomal co-dominant
Z mutant allele of a1AT.1 This is referred to as "PIZZ" in
World Health Organization nomenclature.2 ZZ homozygotes
may be as common as 1 in 2000 births in many North American and
European populations, although the disease is under-recognized and
many patients go undiagnosed. The mutant Z gene is especially common
in populations derived from Scandinavian or British Isles gene pools
(Figure 26–1)...."
The content above is only an
excerpt. For full access, log into an existing user account below, purchase an annual subscription, or
purchase a short-term subscription to the complete website.
offers pediatrics students,
educators, and practioners access to leading McGraw-Hill texts, interactive imaging
content, exclusive multimedia, and flexible curricular tools.
Timed access to all of AccessPediatrics
24 hours for $29.95
48 hours for $49.95
Or