Orphanet Journal of Rare Diseases

Table 1 Main clinical and laboratory findings in Mmalton cases

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

Case	Age	Sex	AAT level	Liver histology	Calcification	Genotype
1	38	F	20-75^a	cirrhosis	+++	Homozygous
2	50	M	128^a	cirrhosis	++	Heterozygous
3	62	M	109^a	Cirrhosis and HCC	+++	Heterozygous
4	56	M	49^a	cirrhosis	+++	Homozygous
5	4	M	75^b	Mild CAH	++	Heterozygous
6	6	M	45^b	Mild CAH	+++	Homozygous
7	2	M	20^b	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

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ISSN: 1750-1172

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