Alpha-l-antitrypsin deficiency

Liihr, H.F., Schlaak, J.F., Dienes, H.R, Lorenz, J., Meyer zum Biischen-felde, K.-H., Gerken, G. Liver cirrhosis associated with heterozygous alpha-l-antitrypsin deficiency type PiMS and autoimmune features. Digestion 1995 56 41-45... 

Mowat, A.R Alpha-l-antitrypsin deficiency (PiZZ) features of liver involvement in childhood. Acta Paediatr. 1994 393 (Suppl.) 13-17... 

Perlmutter, D.H. Liver injury in alpha(l)-antitrypsin deficiency an aggregated protein induces mitochondrial injury (review). J. Clin. Invest. 2002 110 1579-1583... 

Prachalias, A.A., Kalife, M., Francavilla, R., Muiesan, R, Dhawan, A., Baker, A., Hadzic, D., Mieli-Vergani, G., Rela, M., Heaton, N.D. Liver transplantation for alpha-l-antitrypsin deficiency in children. Transplant. Internal. 2000 13 207—MO... 

Propst, T., Propst, A., Dietze, O., Judmaier, G., Braunsteiner, H., Vogel, W. Prevalence of hepatocellular carcinoma in alpha-l-antitrypsin deficiency. J. Hepatol. 1994 21 1006-1011... 

Yoon, D., Kueppers, F., Genta, R.M., Klintmalm, G.B., Khaoustov, VJ., Yoffe, B. Role of alpha-1-antichymotrypsin deficiency in promoting cirrhosis in two siblings with heterozygous alpha-l-antitrypsin deficiency phenotype SZ (case report). Gut 2002 50 730—732... 

Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1 AUeUc association and a unique haplotype associated with alpha-l antitrypsin deficiency. Am J Hum Genet 1994 55 126-33. 

Propst T, Propst A, Dietze O, Judmaier G, Braun-steiner H, Vogel W. Alpha-l-antitrypsin deficiency and liver disease. Dig Dis 1994 12 139-49. 

Although the vast majority of cases of emphysema do not have alpha-l-antitrypsin deficiency, it is possible that an overwhelming local concentration of proteases may be beyond the body s capability to counter with anti-proteases. There is evidence that elastases are important in this process. 

Barros-Tizon JC, Torres ML, Blanco 1, Martinez MT. Investigators of the r EXAsg. Reduction of severe exacerbations and hospitalization-derived costs in alpha-l-antitrypsin-deficient patients treated with alpha-l-antitrypsin augmentation therapy. Ther Adv Respir EHs April 2012 6(2) 67-78. 

Cholestatic disorder Alcohol-related cirrhosis Autoimmune cirrhosis Cryptogenic cirrhosis Haemochromatosis Alpha-l-antitrypsin deficiency Wilson s disease Primary biliary cirrhosis ... 

Inborn errors of metabolism Wilson s disease Alpha-l-antitrypsin deficiency Glycogen storage disease Tyrosinaemia Galactosaemia Cystic fibrosis Defects of fatty acid oxidation Other... 

Idiopathic pulmonary fibrosis Alpha-l-antitrypsin deficiency Primary pulmonary hypertension Re-transplantation Secondary pulmonary hypertension Lymphangioleiomyomatosis Langerhans cell histiocytosis Sarcoidosis... 

R. CL Hubbard, S. Sdlen, EX Czenki, L. Stephens, and R. G. CrystaL Biochemical efficacy of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA 20th 1259(1988). 

Fisher R, Taylor L, Sherlock S. Alpha-1-antitrypsin deficiency in fiver disease the extent of the problem. Gastroenterology i976 71 646-51. 

R. C. Hubbard, M. L. Brantly, S. E. Sellers, M. E. Mitchell, and R. G. Crystal. Antineutrophil-elastase defenses of the lower respiratory tract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin. Ann. Intern. Med. 777 206(1989). 

Alpha-l-antitrypsin (aj-AT) deficiency disease is associated with PAS-positive, diastase-resistant globules in the hepatocytes (Fig. 15.28A). Immunohistochemical staining for aj-AT may be useful in verifying the nature of these granules (Fig. 15.28B). In addition, early in aj-AT deficiency, these globules may not be as visible and immunohistochemistry may be useful in highlighting aj-AT (Fig. 15.28B). The aj-AT stain may be positive as early as 19 weeks gestation. ... 

Flotte, T. R., Brantly, M. L., Spencer, L. T., Byrne, B. J., Spencer, C. T., Baker, D. J. and Humphries, M. (2004). Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum. Gene Ther. 15, 93-128. 

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