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Emphysema, Congenital Lobar

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Copyright 1992, 2003

Synonyms of Emphysema, Congenital Lobar

Disorder Subdivisions

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).

Symptoms

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.

Causes

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Congenital Lobar Emphysema. Comparisons may be useful for a differential diagnosis:

Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies. A clear membrane is found lining the sack like spaces (alveolar) in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein that stabilizes alveolar volume. When this surfactant is missing the affected infant must be placed on some type of ventilator. Recently new drugs have become available to aid the infant in breathing; Surfactant TA and Human Surf. (For more information on this disorder, choose "Infant Respiratory Distress Syndrome" as your search term in the Rare Disease Database.)

Bronchial Asthma is a common respiratory disease marked by many different causes, airway irritability, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the United States population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females.

Pneumonia is an infection of the lungs. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in the space surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia frequently occurs in middle-aged to older adults with various underlying diseases. However, it can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and other infectious agents.

Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, coughing and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an overproduction of mucous. (For more information on this disorder, choose "Interstitial Pneumonia" as your search term in the Rare Disease Database.)

Secondary Pulmonary Hypertension is a disorder of the lungs. It rarely occurs on its own and is usually the result of other lung disease or related diseases in other organs. This disorder is characterized by breathing difficulties, especially after exertion. (For more information on this disorder, choose "Secondary Pulmonary Hypertension" as your search term in the Rare Disease Database.)

Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of severe lung disease. It is used as a term for pulmonary heart disease which affects both the heart and lungs. A common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in the right ventricle of the heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include enlargement of the right side of the heart, difficulty breathing, fainting spells on exertion, and substernal angina pain in the chest. (For more information on this disorder, choose "Cor Pulmonale" as your search term in the Rare Disease Database.)

Alpha-1-Antitrypsin Deficiency is characterized by early development of breathing difficulties (Panacinar Emphysema, affecting the whole lung equally). Breathing becomes more and more difficult as lung tissue is destroyed by the overproduction of trypsin. Shortness of breath, chronic cough and frequent lung infections are usually the earliest symptoms. In severe cases symptoms may be present in early childhood or appear in the twenties. Less severe deficiencies of Alpha-1-Antitrypsin may not cause symptoms until the fifties or sixties. (For more information on this disorder, choose "Alpha-1-Antitrypsin Deficiency" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
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
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
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Emphysema, Congenital Lobar Resources

Organizations:

References

TEXTBOOKS
Behrman RE, Kliegman RM, Arvin AM. Eds. Nelson Textbook of Pediatrics. 15th ed. W.B. Saunder Company. Philadelphia, PA; 1996:1227.

REVIEW ARTICLES
Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Feat Diagn Ther. 2001;16:200-02.

Schwartz DS, Reyes-Mugica M, Keller MS. Imaging of surgical diseases of the newborn chest. Interpleural mass lesions. Radiol Clin North Am. 1999;37:1067-78.

JOURNAL ARTICLES
Rothenberg SS. Experience with thoracoscopic lobectomy in infants and children. J Pediatr Surg. 2003;38:102-04.

Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Feat Diagn Ther. 2001;16:200-02.

Quinton AE, Smoleniec JS. Congenital lobar emphysema - the disappearing chest mass: antenatal ultrasound appearance. Ultrasound Obstet Gynecol. 2001;17:169-71.

Olutoye OO, Coleman BG, Hubbard AM, et al. Prenatal diagnosis and management of congenital lobar emphysema. J Pediatr Surg. 2000;35:792-95.

Wansaicheong GK, Ong CL. Congenital lobar emphysema: antenatal diagnosis and follow up. Australas Radiol. 1999;43:243-45.

Lacy DE, Shaw NJ, Pilling DW, et al. Outcome of congenital lung abnormalities detected antenatally. Acta Paediatr. 1999;88:454-58.

Phillipos EZ, Libsekal K. Flexible bronchoscopy in the management of congenital lobar emphysema in the neonate. Can Respir J. 1998;5:219-21.

FROM THE INTERNET
Cincinnati Children's Hospital Medical Center. Congenital Lobar Emphysema. 2001:1p.
www.cincinnatichildrens.org/health/info/chest/diagnose/cle.htm?View=Content

Ordonez P. Congenital Lobar Emphysema. Neonatology on the Web. Last modified: 2/20/97:2pp.
www.neonatology.org/syllabus/cle.html

De Milto L. Congenital Lobar Emphysema. A HealthyMe!. Last Updated: January 28, 2003:3pp.
www.ahealthyme.com/topic/topic100586652

Wood BP. Congenital Lobar Emphysema. eMedicine. Last Updated; December 7, 2001:9pp
www.emedicine.com/radio/topic188.htm

McKusick VA, Ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Entry Number; 130710: Last Edit Date; 9/24/1994.

Report last updated: 2008/04/17 00:00:00 GMT+0