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Table 2 Main clinical and laboratory findings in Z AAT patients

From: Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Case

Age

Sex

AAT level

Liver histology

Calcification

Genotype

1

22

M

28a

cirrhosis

–

Homozygous

2

44

M

82a

cirrhosis

–

Homozygous

3

45

M

75a

cirrhosis

–

Homozygous

4

56

F

102a

Cirrhosis and HCC

–

Compound heterozygous (S/Z)

5c

11

F

125b

PSC

–

Heterozygous

6d

17

M

196b

Mild CAH

–

Heterozygous

7d

13

M

222b

NSRH

–

Heterozygous

  1. aRadial immunodiffusion (n.v. 200–400 mg/dL); bNephelometry (n.v.90–200 mg/dL); cPSC: Primary sclerosing cholangitis; dLiver biopsy obtained during a staging for Hodgkin’s lymphoma; CAH = Chronic Active Hepatitis; NSRH = Non Specific Reactive Hepatitis