Testing

alpha-1 Antrypsin S and Z Mutations

alpha-1-antitrypsin (A1AT) deficiency is an autosomal recessive inherited
disorder with a prevalence of 1:2500-1:5000 in the US Caucasian
population.

The most common basis of a A1AT deficiency is a single base pair (1bp)
substitution at codon 342, the Z mutation or at codon 264, the S mutation.

Homozygosity for the Z mutation or compound heterozygosity for Z and S
mutation typically lead to emphysema in young adults and liver disease in
some infants and adults.

Other disease associations (immune): membranoproliferative
glomerulonephritis, rheumatoid arthritis, idiopathic hemochromatosis

Preventative: do not smoke; take antioxidants such as: vitamin E,
beta-carotene, alpha-tocopherol, and vitamin A and vitamin C in the diet.

References:

1. Gadek, J., Fells, G., Zimmerman, R., Rennard, S., and Crystal, I.L. (1981)
Anti-elastases of the human alveolar structure: implication for the
protease-antiprotease theory of emphysema. J. Clin. Invest. 68, 889-98.

2. Silverma, E.K., Miletich, J.P., et al. (1989) A1AT deficiency: high prevalence in
St. Louis area determined by direct population screening. Am. ev. Respir. Dis.
140, 961-6.

3. Cox, D.W. (1987) Prenatal diagnosis of AlATdeficiency and estimates of fetal
risk for disease. J. Med. Genet. 24, 52-59

4. Crystal, R.G. (1990) A1AT deficiency, emphysema, and liver disease. J. Clin.
Invest.85, 1343-52.

5. Moroz, S.P., Cutz, E., Balfe, J.W. and Sass-Kortsak, A. (1976)
Membranoproliferative glorerulonephritis in childhood cirrhosis associated with
alpha-1-antitrypsin deficiency. Pediatrics 57:232.

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