Alpha-1-Antitrypsin Deficiency in Early Childhood
Abstract
Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagnosed. Isoelectric focusing in 161 infants with liver dysfunction revealed 14.7% severe and 12.2% moderate AATD. Positive PAS-D and immunohistochemical staining was found in 60% of severe AATD, but in moderate AATD, only immunohistochemistry was positive in 100%. Bilirubinostasis, hepatomegaly, splenomegaly, cholestasis, hepatomegaly associated with cholestasis, acholia, high transaminases, and low birthweight were significantly more frequent in severe than in moderate AATD. Both AATDs showed significant portal inflammation, hepatic fibrosis, and viral infection. Early screening in children with liver dysfunction can contribute to the successful detection of AATD.
Keywords:
Alpha-1-antitrypsin deficiency / childhood / liver diseaseSource:
Fetal and Pediatric Pathology, 2011, 30, 5, 312-319Publisher:
- Taylor & Francis Inc, Philadelphia
Funding / projects:
- Complex diseases as a model system for phenotype modulation- structural and functional analysis of molecular biomarkers (RS-MESTD-Basic Research (BR or ON)-173008)
DOI: 10.3109/15513815.2011.572961
ISSN: 1551-3815
PubMed: 21609162
WoS: 000294226300006
Scopus: 2-s2.0-80052067465
Collections
Institution/Community
PharmacyTY - JOUR AU - Topić, Aleksandra AU - Prokic, Dragan AU - Stankovic, Ivica PY - 2011 UR - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1481 AB - Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagnosed. Isoelectric focusing in 161 infants with liver dysfunction revealed 14.7% severe and 12.2% moderate AATD. Positive PAS-D and immunohistochemical staining was found in 60% of severe AATD, but in moderate AATD, only immunohistochemistry was positive in 100%. Bilirubinostasis, hepatomegaly, splenomegaly, cholestasis, hepatomegaly associated with cholestasis, acholia, high transaminases, and low birthweight were significantly more frequent in severe than in moderate AATD. Both AATDs showed significant portal inflammation, hepatic fibrosis, and viral infection. Early screening in children with liver dysfunction can contribute to the successful detection of AATD. PB - Taylor & Francis Inc, Philadelphia T2 - Fetal and Pediatric Pathology T1 - Alpha-1-Antitrypsin Deficiency in Early Childhood VL - 30 IS - 5 SP - 312 EP - 319 DO - 10.3109/15513815.2011.572961 ER -
@article{ author = "Topić, Aleksandra and Prokic, Dragan and Stankovic, Ivica", year = "2011", abstract = "Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagnosed. Isoelectric focusing in 161 infants with liver dysfunction revealed 14.7% severe and 12.2% moderate AATD. Positive PAS-D and immunohistochemical staining was found in 60% of severe AATD, but in moderate AATD, only immunohistochemistry was positive in 100%. Bilirubinostasis, hepatomegaly, splenomegaly, cholestasis, hepatomegaly associated with cholestasis, acholia, high transaminases, and low birthweight were significantly more frequent in severe than in moderate AATD. Both AATDs showed significant portal inflammation, hepatic fibrosis, and viral infection. Early screening in children with liver dysfunction can contribute to the successful detection of AATD.", publisher = "Taylor & Francis Inc, Philadelphia", journal = "Fetal and Pediatric Pathology", title = "Alpha-1-Antitrypsin Deficiency in Early Childhood", volume = "30", number = "5", pages = "312-319", doi = "10.3109/15513815.2011.572961" }
Topić, A., Prokic, D.,& Stankovic, I.. (2011). Alpha-1-Antitrypsin Deficiency in Early Childhood. in Fetal and Pediatric Pathology Taylor & Francis Inc, Philadelphia., 30(5), 312-319. https://doi.org/10.3109/15513815.2011.572961
Topić A, Prokic D, Stankovic I. Alpha-1-Antitrypsin Deficiency in Early Childhood. in Fetal and Pediatric Pathology. 2011;30(5):312-319. doi:10.3109/15513815.2011.572961 .
Topić, Aleksandra, Prokic, Dragan, Stankovic, Ivica, "Alpha-1-Antitrypsin Deficiency in Early Childhood" in Fetal and Pediatric Pathology, 30, no. 5 (2011):312-319, https://doi.org/10.3109/15513815.2011.572961 . .