Table 1.
Main clinical and laboratory findings in Mmalton cases
Case | Age | Sex | AAT level | Liver histology | Calcification | Genotype |
---|---|---|---|---|---|---|
1 | 38 | F | 20-75a | cirrhosis | +++ | Homozygous |
2 | 50 | M | 128a | cirrhosis | ++ | Heterozygous |
3 | 62 | M | 109a | Cirrhosis and HCC | +++ | Heterozygous |
4 | 56 | M | 49a | cirrhosis | +++ | Homozygous |
5 | 4 | M | 75b | Mild CAH | ++ | Heterozygous |
6 | 6 | M | 45b | Mild CAH | +++ | Homozygous |
7 | 2 | M | 20b | NSRH | – | Homozygous |
aRadial immunodiffusion (n.v. 200–400 mg/dL); bNephelometry (n.v.90–200 mg/dL); CAH = Chronic Active Hepatitis; NSRH = Non Specific Reactive Hepatitis