Alpha -antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency Task Force. American Thoracic Society/European Respiratory Society Statement Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003 168 818-900. 

The basic genetic or biochemical defect that causes the condition (for example, alpha-1 antitrypsin deficiency)... 

The severe form of alpha-1 antitrypsin deficiency is the result of a single nucleotide substitution that produces a single amino acid substitution. This is best described as a... 

Indications Replacement therapy in patients with congenital alpha-1 antitrypsin deficiency who have panacinar emphysema... 

Clinical pharmacology Alpha-1 antitrypsin deficiency is a chronic, hereditary, usually fatal, autosomal recessive disorder in which a low concentration of alphai-proteinase inhibitor is associated with slowly progressive, severe, panacinar emphysema that most often manifests itself in the third to fourth decades of fife. The pathogenesis of development of emphysema in alpha-1 antitrypsin deficiency is believed to be due to a chronic biochemical imbalance between elastase and alphai-proteinase inhibitor (the principal inhibitor of neutrophil elastase), which is deficient in alpha-1 antitrypsin disease. As a result it is believed that alveolar structures are unprotected from chronic exposure to elastase released from a chronic low-level burden of neutrophils in the lower respiratory tract, resulting in progressive degradation... 

Alpha-1 antitrypsin deficiency Cardiovascular diseases Familial hypercholesterolemia Many types using vaccine, toxin or endogenous regulatory protein expression strategies... 

Teckman, J.H., An, J. K., Blomenkamp, K., Schmidt, B., and Perlmutter, D., 2004, Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency, Am. J. Physiol. Gastrointest. Liver... 

Alpha 1-Antitrypsin Deficiency Biology Pathogenesis Clinical Manifestations Therapy, edited by R. G. Crystal... 

Alpha-1 antitrypsin deficiency Adult respiratory distress syndrome (ARDS) Pneumocystis pneumonia... 

Crystal, R. G. (1990). Alpha 1 -antitrypsin deficiency, emphysema, and liver disease Genetic basis and strategies for therapy. J. Clin. Invest. 85, 1343-1352. 

Treatment far alpha 1-antitrypsin deficiency [editorial]. Lancet 2 812 (1985). 

Antroeutrophil-elastase defenses of the lower respiratory bract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin. Ann Intern. ifaj i/ / 2Q6 (1989). 

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). 

Schievink WI, Puumala MR, Meyer FB et al. (1996) Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1 -antitrypsin deficiency. J Neurosurg 85 503-506... 

Alpha-1-antitrypsin gene gene therapy—alpha-1-antitrypsin deficiency growth hormone thyroid stimulating hormone DA VP pituitary dwarfism hypothyroidism enuresis... 

Cholestasis occurred in a woman with alpha-1 antitrypsin deficiency (phenotype PiZZ) who had taken prochlorperazine 5-10 mg qds for 27 months (3). She developed jaundice and ascites. Liver biopsy confirmed diffuse advanced chronic cholestasis, moderate portal and periportal inflammation, and bridging necrosis. Her liver function tests normalized within days of withdrawal of prochlorperazine. 

Mindikoglu A, Anantharaju A, Hartman G, Li S, Villanueva J, Thiel D. Prochlorperazine induced cholestasis in a patient with alpha 1 antitrypsin deficiency. Hepato-Gastroenterology 2003 50 1338-40. 

Bell, H., Schrumpf, E., Fagerhol, M.K. Heterozygous MZ alpha-1-antitrypsin deficiency in adults with chronic liver disease. Scand. J. Gastroenterol. 1990 25 778-792... 

Carrell, R.W., Lomas, D.A. Mechanisms of disease-Alpha-1-antitrypsin deficiency. A model for conformational diseases (review). New Engl. J. Med. 2002 346 45-53... 

Deutsch, J., Becker, H., Aubiick, L. Histopathological features of liver disease in alpha-1 antitrypsin deficiency. Acta Paediatr. 1994 393 (Suppl.) 8-12... 

Francavilla, R., Castellaneta, S.P, Hadzic, N., Chambers, S.M., Port-mann, B., Tung, J., Cheeseman, R, Heaton, N.D., Mieli-Vergani, G. Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of pediatric liver transplantation. J. Hepatol. 2000 32 986—992... 

A 40-year-old man with cough, shortness of breath, and fever progressed to respiratory failure. He had smoked cocaine for the previous 17 years. His tobacco history was not known. His medical history included recurrent respiratory tract infections. A chest X-ray and CT scan showed findings consistent with bilateral bullous emphysema with a right lung abscess. He was ventilated and given antibiotics but died from respiratory failure secondary to pneumonia. Sputum cultures were positive for Enterobacter cloacae and Streptococcus species. Alpha-1 antitrypsin deficiency was ruled out. 

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

Hutchison D. Alpha 1-antitrypsin deficiency in Europe Geographical distribution of Pi types S and Z. Respir Med 1998 92 367-77. 

Morin T, Martin J, Feldmann G, Rueff B, Benhamou J, Ropartz C. Heterozygous alpha 1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association. Lancet 1975 1 250-1. 

Povey S. Genetics of alpha 1-antitrypsin deficiency in relation to neonatal liver disease. Mol Biol Med 1990 7 161-72. 

Propst T, Propst A, Dietze O, Judraaier G, Braun-steiner H, Vogel W. High prevalence of viral infection in adults with hoinozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease. 

Sharp H. Wherefore art thou Ever disease associated with alpha-1 antitrypsin deficiency Hepatology 1995 22 666-8. 

Sveger T. The natural history of liver disease in alpha 1-antitrypsin deficient children. Acta Paediatr Scand 1988 77 847-51. 

Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology 1995 22 514-7. 

WaU M, Moe E, Eisenberg J, Powers M, Buist N, Buist A. Long-term foEow-up of a cohort of chEdren with alpha-1-antitrypsin deficiency. J Pediatr 1990 116 248-51. 

Zakiah I, Zaini A, Jamilah B, Zawiah A. Alpha-1-antitrypsin deficiency in babies with prolonged jaundice. Malays J Pathol 1992 14 91-4. 

Stockley RA. Alpha-1-antitrypsin deficiency What next Thorax 2000 55 614-618. 

Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEVi decline in individuals with severe deficiency of alpha-1-antitrypsin. Am J Respir Crit Care Med 1998 158 49-59. 

C.-B. Laurell and S. Eriksson. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand. J. Lab. Clin. Med. 75 132 (1963). 

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