Alpha 1-antitrypsin deficiency and pregnancy.
Alpha1-antitrypsin deficiency is an inherited pulmonary disorder which results from a deficiency of a major plasma protease inhibitor. The onset and severity of symptoms vary widely and depend on the genotype and whether the patient smokes cigarettes. Alpha1-antitrypsin in pregnancy has only been previously reported twice. Our patient had a functional serum alpha1-antitrypsin level which was 15% of normal but was clinically asymptomatic and she did not smoke. Her genotype revealed a non-ZZ pattern. Her obstetric history was complicated by preterm labor in each of her five ongoing pregnancies. Alpha1-antitrypsin deficiency is inherited via two codominant autosomal genes. Although there is great variability in severity of disease, seriously affected patients may have emphysema and hepatic abnormalities. Patients with non-ZZ genotypes or who are heterozygotes may have favorable pregnancy outcomes.
Kuller
J A
JA
Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill 27599-7570, USA.
Katz
V L
VL
McCoy
M C
MC
Bristow
C L
CL
D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007752:Obstetric Labor, Premature; D011247:Pregnancy; D011248:Pregnancy Complications; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin