Emphysema, Congenital Lobar

Emphysema, Congenital Lobar

National Organization for Rare Disorders, Inc.

Important

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.

Synonyms

  • 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).

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.

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

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



American Lung Association

1301 Pennsylvania Ave NW

Suite 800

Washington, DC 20004

USA

Tel: (202)785-3355

Fax: (202)452-1805

Tel: (800)586-4872

Email: info@lungusa.org

Internet: http://www.lungusa.org



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



COPD-ALERT

3210 N. Leisure World Blvd.

Ste. 614

Silver Spring, MD 20906

Tel: (301)598-6693

Fax: (301)598-6926

Email: vlady@copd-alert.com

Internet: http://www.copd-alert.com



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.

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