Heterozygous alpha 1-antitrypsin deficiency (PiSZ) in an adolescent with asthma.
Although alpha 1-antitrypsin deficiency has been associated with obstructive lung disease in individuals possessing a homozygous phenotype (PiZZ), this association has not been as clearly documented in heterozygous individuals (PiMZ, PiMS, and PiSZ phenotypes). Information regarding the heterozygous adolescent population is particularly lacking, making the evaluation and treatment of such patients difficult. We present the case of an adolescent with a history of asthma and heterozygous (PiSZ) alpha 1-antitrypsin deficiency and outline our management with reference to appropriate literature.
Nuckton
T J
TJ
Department of Pediatrics, Tulane University School of Medicine, New Orleans, La 70112, USA.
Beckerman
R C
RC
D000293:Adolescent; D001249:Asthma / Q000150:complications*; D005260:Female; D005652:Functional Residual Capacity; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012115:Residual Volume; D014109:Total Lung Capacity; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin