α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

Dina N Greene, Melinda Procter, Patti Krautscheid, Rong Mao, Elaine Lyon, David G Grenache

Department of Pathology, University of Utah School of Medicine, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

Chest 2012 Jan

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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' 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.

Citation

Dina N Greene, Melinda Procter, Patti Krautscheid, Rong Mao, Elaine Lyon, David G Grenache. α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Chest. 2012 Jan;141(1):239-41