Advances in Human Genetics 11 by Magne K. Fagerhol, Diane Wilson Cox (auth.), Harry Harris,

By Magne K. Fagerhol, Diane Wilson Cox (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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A high proportion of Pi types MS and S in patients with bronchial asthma was reported by Fagerhol and Hauge (1969). , 1975). , 1976). Arnaud et al. (l976b) found an increased frequency of Pi type MS among 298 asthmatic children when compared with controls. This increase was found to be entirely in the group of65 patients with nonatopic 36 Magne K. Fagerhol and Diane Wilson Cox asthma. The association of Pi heterozygosity with asthma, if it exists, appears to be with the S rather than the Z allele, suggesting that the association is not related to a reduced concentration of

Hepatoma was present in 3% of 246 Pi Z patients over 20 years of age admitted to Swedish hospitals (Larsson, 1978). This figure would give an underestimate of the risk, as 40% of the patients were less than 50 years of age. In general, the data suggest an increased frequency of hepatocellular carcinoma for individuals of both Pi types MZ and Z. AT deficiency do not show this elevation. ), two patients had primary liver carcinoma; one of these had cirrhosis without COPD, the other had COPD without evidence of liver disease.

Similar renal changes have been reported by Milford Ward et al. (1975) and Sharp (1976). Glomerular renal damage, manifested by constant or recurrent proteinuria or hematuria, was found in 15% of the 246 Swedish Pi Z patients ascertained through hospital admission (Larsson, 1978). , 40 Magne K. Fagerhol and Diane Wilson Cox 1976a). these deposits were found in addition to those of immunoglobulins IgG, M, and A and complement (C3) which are frequently found in cases of membranoproliferative glomerulonephritis.

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