Appropriateness of newborn screening for α1-antitrypsin deficiency

Journal of Pediatric Gastroenterology and Nutrition

Volumn 58, Issue 2, 2014, Pages 199-203

  Teckman, Jeffrey ^a   Pardee, Erin ^b   Howell, R Rodney ^c   Mannino, David ^d   Sharp, Richard R ^c   Brantly, Mark ^b   Wanner, Adam ^b   Lamson, Jamie ^b  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Alpha 1 Foundation   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF KENTUCKY   (United States)

Author keywords

genetic disease; hepatitis; liver disease; pediatrics; smoking

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEIN INTAKE;

ADVERSE EFFECTS; ALPHA 1-ANTITRYPSIN DEFICIENCY; BLOOD; ECONOMICS; EMPHYSEMA; HEALTH PROMOTION; HUMAN; NEWBORN; NEWBORN SCREENING; PROTEIN INTAKE; PSYCHOLOGY; SMOKING; THERAPEUTIC USE;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; DIETARY PROTEINS; EMPHYSEMA; HEALTH PROMOTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; SMOKING;

EID: 84894102382     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000196     Document Type: Article

References (19)

1. American Thoracic Society. European Respiratory Society. American Thoracic Society/European Respiratory Society Statement: standards for the diagnosis and management of individuals with alpha-1 anti-trypsin deficiency. Am J Respir Crit Care Med 2003;168:818-900.
2. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997;75:397-415.
3. Teckman JH. Alpha1-antitrypsin deficiency in childhood. Semin Liver Dis 2007;27:274-81.
4. Lindblad D, Blomenkamp K, Teckman J. Alpha-1-antitrypsin mutant Z protein content in individual hepatocytes correlates with cell death in a mouse model. Hepatology 2007;46:1228-35.
5. Perlmutter DH, Silverman GA. Hepatic fibrosis and carcinogenesis in alpha1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders. Cold Spring Harb Perspect Biol 2011;3: a005801.
6. Czaja AJ. Frequency and significance of phenotypes for alpha1-anti-trypsin deficiency in type 1 autoimmune hepatitis. Dig Dis Sci 1998; 43:1725-31.
7. Elzouki AN, Verbaan H, Lindgren S, et al. Serine protease inhibitors in patients with chronic viral hepatitis. J Hepatol 1997;27:42-8.
8. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200, 000 infants. N Engl J Med 1976;294:1316-21.
9. Sveger T, Thelin T. A future for neonatal alpha1-antitrypsin screening? Acta Paediatr 2000;89:628-31.
10. Thelin T, Sveger T, McNeil TF. Primary prevention in a high-risk group: smoking habits in adolescents with homozygous alpha-1-antitrypsin deficiency (ATD). Acta Paediatr 1996;85:1207-12.
11. Sveger T, Thelin T, McNeil TF. Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk condition. Acta Paediatr 1997;86:37-40.
12. Mowat AP. Alpha 1-antitrypsin deficiency (PiZZ): features of liver involvement in childhood. Acta Paediatr Suppl 1994;393:13-7.
13. Volpert D, Molleston JP, Perlmutter DH. Alpha1-antitrypsin deficiency-associated liver disease progresses slowly in some children. J Pediatr Gastroenterol Nutr 2000;31:258-63.
14. Ibarguen E, Gross CR, Savik SK, et al. Liver diseaseinalpha-1-antitrypsin deficiency: prognostic indicators. J Pediatr 1990;117:864-70.
15. Eriksson S. Alpha-1-antitrypsin deficiency: natural course and therapeutic strategies. In: Boyer JL, Blum HE, Maier K-P, eds. Falk Symposium 115: Liver Cirrhosis and Its Development. et al. Dordrecht: Kluwer Academic; 2001:307-15.
16. Eden E, Hammel J, Rouhani FN, et al. Asthma features in severe alpha1-antitrypsin deficiency: experience of the National Heart, Lung, and Blood Institute Registry. Chest 2003;123:765-71.
17. Buist AS, Burrows B, Eriksson S, et al. The natural history of air-flow obstruction in PiZ emphysema. Report of an NHLBI workshop. Am Rev Respir Dis 1983;127:S43-5.
18. Carpenter MJ, Strange C, Jones Y, et al. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med 2007; 33:22-8.
19. Bakula A, Socha P, Pawlowska J, et al. Good and bad prognosis of alpha-1-antitrypsin deficiency in children: when to list for liver transplantation. Transplant Proc 2007;39:3186-8.