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

doi:10.1378/chest.11-0104

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Article

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

Chest - 1 Jan 2012

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

Abstract excerpt

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...

Topics

Alleles
DNA
DNA Mutational Analysis
Diseases in Twins
Female
Humans
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Pneumothorax
Pregnancy
Twins, Dizygotic
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 22215832
DOI: 10.1378/chest.11-0104

Genes

SERPINA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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