α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22215832.
- Also identified by DOI 10.1378/chest.11-0104.
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Abstract
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.
Medical subject headings
- DNA
- Diseases in Twins
- Mutation
- Pneumothorax
- Twins, Dizygotic
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency