Emphysema, Congenital Lobar

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Emphysema, Congenital Lobar is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • CLE
  • Congenital Pulmonary Emphysema
  • Emphysema, Localized Congenital
  • Lobar Emphysema, Infantile
  • Lobar Tension Emphysema in Infancy

Disorder Subdivisions

  • None

General Discussion

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases of congenital lobar emphysema may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).


Congenital lobar emphysema is characterized by (1) difficulty in breathing or very rapid respiration (respiratory distress) in infancy, (2) an enlarged chest due to overinflation of at least one lobe of the lung, (3) compressed normal lung tissue in the section of the lung nearest to the diseased lobe, (4) bluish color of the skin due to a lack of oxygen in the blood (cyanosis), and (5) underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia).

Congenital lobar emphysema most often affects the upper lobe of the left lung and, less frequently, the middle right lobe. It may cause the lung tissue to be very fragile and to collapse easily.

Experience suggests that the earlier the age of onset of congenital lobar emphysema, the more likely it is that the symptoms will get worse and lung function will degenerate as well.


Congenital lobar emphysema may result from unknown causes or it may be inherited. Many cases are sporadic, (unknown causes) but others are transmitted by autosomal dominant genes.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Developmentally, congenital lobar emphysema may be the result of abnormally small air sacs (alveoli) in the lung or an unusual structure of the large airways (bronchi).

Affected Populations

About 50% of cases occur in the first four weeks after birth. About 75% of cases are found in infants less than six months of age. This disorder is more common among boys than among girls.

Standard Therapies


The extent of disease is determined by radiological investigation, including X-rays, computed-assisted tomography (CAT) and magnetic resonance imaging (MRI). These scans can determine exactly which part of the lung and which lobe of the lung is affected and to what degree.

Lung function tests are also valuable studies in helping the doctor determine exactly which part of the lung is affected and if surgery is necessary.


Treatment of congenital lobar emphysema depends on the extent of damage to the lungs at the time of diagnosis. When the lung damage is limited, the disease may not cause any adverse affects. However, if the condition seriously affects the patient's ability to breathe, the usual treatment is the surgical removal (resection) of the affected lobe of the lung or the whole lung on the affected side.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

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Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:




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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.