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α1-Antitrypsin Deficiency in Fraternal Twins Born With Familial Spontaneous Pneumothoraxα1-Antitrypsin Deficiency in Fraternal Twins

Dina N. Greene, PhD; Melinda Procter, BS; Patti Krautscheid, BS; Rong Mao, MD; Elaine Lyon, PhD; David G. Grenache, PhD
Author and Funding Information

From the Department of Pathology (Drs Greene, Mao, Lyon, and Grenache), University of Utah Health School of Medicine; and the ARUP Institute for Clinical and Experimental Pathology (Drs Mao, Lyon, and Grenache and Mss Procter and Krautscheid), Salt Lake City, UT.

Correspondence to: David G. Grenache, PhD, Department of Pathology, University of Utah School of Medicine, ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108; e-mail: david.grenache@path.utah.edu


Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (http://www.chestpubs.org/site/misc/reprints.xhtml).


© 2012 American College of Chest Physicians


Chest. 2012;141(1):239-241. doi:10.1378/chest.11-0104
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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’ α1-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.

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