RT Book, Section
A1 Teckman, Jeffrey H.
A2 Bishop, Warren P.
SR Print(0)
ID 55943486
T1 Chapter 26. Alpha-1-Antitrypsin Deficiency
T2 Pediatric Practice: Gastroenterology
YR 2010
FD 2010
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-163379-6
LK accesspediatrics.mhmedical.com/content.aspx?aid=55943486
RD 2024/04/24
AB 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).