Characteristics of alpha-1 antitrypsin deficiency genotypes

Genotype	Risk for emphysema	True plasma level, micromol/L (SI units)	Commercial standard plasma level, mg/dL
MM (normal)	No increase	20 to 48	80 to 220
MZ	Possible mild increase	17 to 33	90 to 210
SS	No increase	15 to 33	100 to 200
SZ*	Mild increase (20 to 50 percent)	8 to 16	75 to 120^¶
ZZ	High risk (80 to 100 percent)	2.5 to 7	20 to 45
Null	High risk (100 percent by age 30)	0	0

Pulmonary and plasma features of the different genotypes of alpha-1 antitrypsin (AAT) deficiency. Measurement of AAT serum levels can be done by enzyme-linked immunosorbent assay (ELISA) or nephelometry.

* Heterozygotes with the SZ genotype rarely have evidence of clinical pulmonary disease.
¶ Protective threshold of 11 micromol/L (ELISA) is approximately equal to 57 mg/dL by nephelometry.

Adapted from: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168:818.

Graphic 57264 Version 9.0

خرید پکیج

Characteristics of alpha-1 antitrypsin deficiency genotypes