Related Experiment Video
Updated: May 26, 2026

International Expert Consensus and Recommendations for Neonatal Pneumothorax Ultrasound Diagnosis and Ultrasound-guided Thoracentesis Procedure
Published on: March 12, 2020
α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax
Dina N Greene1, Melinda Procter2, Patti Krautscheid2
1Department of Pathology, University of Utah Health School of Medicine, Salt Lake City, UT.
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.
More Related Videos
Related Concept Videos
Pneumothorax-I
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
Pneumothorax-II
Clinical Manifestations:
Pneumothorax II: Pathophysiology
Chronic Obstructive Pulmonary Disease II: Emphysema
Atelectasis II: Pathophysiology
Pulmonary Tuberculosis II
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...

