Clinical symptoms of α-1-antitrypsin deficiency (AlATD) may originate either in the liver in children and adults or in the lung only in adults. Neonatal cholestasis, intrahepatic bile duct hypoplasia, chronic hepatitis, acute liver failure, and cirrhosis are the most common hepatic manifestations. Except for liver transplantation, there is no effective treatment of progressive hepatic disease associated with AlATD. Eighty to 90% of adults with AlATD develop destructive pulmonary emphysema, which seems to be caused by the unchecked action of proteases on lung tissue. Nonsmoking is an important measure to avoid emphysema. There have been attempts at replacement therapy with human AlAT, which are supposed to stop the development of emphysema. A1ATD must be considered when the a 1-globulin peak is missing in the cellulose acetate protein electrophoresis. It is confirmed by a serum level of Al AT below 100 mg/dl. The phenotype (Pi type) is determined by proof of one or two of the main deficiency alleles Z or S by acid starch gel electrophoresis or by isoelectric focusing. The normal level of AIAT in serum is between 150 and 350 mg/dl. It is coded by two M alleles (Pi-type MM). The most important deficiency variant is the homozygous Pi-type ZZ, in which the serum level of A1AT is between 10% and 20% of normal.
KeywordsIdiopathic Pulmonary Fibrosis Total Lung Capacity Pulmonary Emphysema Neonatal Cholestasis Deficiency Allele
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- 6.Cox DW (1989) α 1-Antitrypsin deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited diseases, 6th edn. McGraw-Hill, New York, pp 2409–2438Google Scholar
- 7.Geddes DM, Webley M, Brewerton DA (1977) α 1-Antitrypsin phenotypes in fibrosing alveolitis and rheumatoid arthritis. Lancet 2: 1049–1051Google Scholar
- 9.Eriksson S (1983) Alpha-l-antitrypsin deficiency and liver disease. In: Bianchi L, Gerok W, Landmann L, Sickinger K, Stalder GA (eds) Liver in metabolic diseases. MTP Press, Lancaster, pp 291–302Google Scholar
- 13.Crystal R (1988) Advances in the treatment of patients with early-onset emphysema due to alpha1-antitrypsin deficiency. 7th Congress of the European Society of Pneumology, Sept 9, BudapestGoogle Scholar
- 15.Goedde HW, Benkmann HG, Christ I, Singh S, Hirth L (1970) Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum α 1-antitrypsin ( Pi) in a German population. Humangenetik 10: 235-243Google Scholar