α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.
We report a case of spontaneous familial pneumothorax in fraternal twin boys. The twins' family history is remarkable for reactive airway disease and a female sibling also born with spontaneous pneumothorax. The family had no history of connective tissue disorders, renal cancer, or dermatologic diseases. Analysis of the twins' α(1)-antitrypsin (AAT) genotype, phenotype, and serum concentration revealed that both were compound heterozygous for rare SERPINA1 alleles. These findings suggest a role for AAT deficiency in spontaneous pneumothorax of the newborn. To our knowledge, these are the first genetic data to support etiology of neonatal spontaneous familial pneumothorax.
Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT.
Dina N
DN
Greene
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT.
Melinda
M
Procter
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT.
Patti
P
Krautscheid
Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT.
Rong
R
Mao
Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT.
Elaine
E
Lyon
Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT. Electronic address: david.grenache@path.utah.edu.
David G
DG
Grenache
D000483:Alleles; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011030:Pneumothorax / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D014429:Twins, Dizygotic; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*
C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin; D004247:DNA