Related Experiment Video

Updated: Aug 5, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

Emphysema in an 11-month-old boy with alpha-1 antitrypsin deficiency

Irvin Yi1, Rachel Williams2, Leela Chandrasekar3

  • 1Yale School of Medicine New Haven Connecticut USA.

Pediatric Investigation
|July 31, 2026
PubMed

Insights

This study reports the earliest case of asymptomatic emphysema in an 11-month-old child with Alpha-1 antitrypsin deficiency (A1ATD). It highlights the potential for chronic, asymptomatic lung disease progression in pediatric A1ATD.

Area of Science:

  • Pulmonology
  • Genetics
  • Pediatrics

Background:

  • Alpha-1 antitrypsin deficiency (A1ATD) typically presents with liver disease in childhood or lung disease in adulthood.
  • Childhood-onset lung disease in A1ATD is exceptionally rare.

Purpose of the Study:

  • To document the earliest known case of pediatric emphysema in A1ATD.
  • To investigate the potential for asymptomatic lung disease progression in young children with A1ATD.

Main Methods:

  • Case report of an 11-month-old male infant with A1ATD phenotype PiZZ and neonatal cholestasis.
  • Diagnostic workup included computed tomography (CT) chest imaging.
  • Clinical assessment for respiratory symptoms and fever of unknown origin.

Main Results:

  • CT chest revealed paramediastinal consolidation and basilar centrilobular emphysema.
  • The infant presented with prolonged fever but no respiratory symptoms.
  • Emphysema was identified at 11 months, the earliest documented instance in pediatric A1ATD.

Conclusions:

  • This case represents the earliest documented pediatric emphysema in A1ATD.
  • It suggests that emphysema in A1ATD can develop asymptomatically in infancy.
  • Disease progression in childhood A1ATD may be chronic and transition from asymptomatic to symptomatic stages.
Abstract

Keywords:
Alpha‐1 antitrypsin deficiencyEmphysemaPneumonia

Related Concept Videos

Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
Breathing01:05

Breathing

The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features01:24

Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features

Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...
Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations01:19

Chronic Obstructive Pulmonary Disease IV: Clinical Manifestations

Chronic Obstructive Pulmonary Disease, or COPD, is a long-term condition marked by persistent and only partially reversible airflow limitation. It involves two overlapping conditions—chronic bronchitis and emphysema—which often co-appear but differ in dominant symptoms and underlying mechanisms.Chronic Bronchitis FeaturesChronic bronchitis presents with a persistent productive cough and thick, sometimes purulent mucus due to airway inflammation, enlarged mucus glands, and goblet cell...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation