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$Unique_ID{BRK03700}
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$Title{Emphysema, Congenital Lobar}
$Subject{Emphysema Congenital Lobar Emphysema Localized Congenital Lobar
Emphysema Infantile Lobar Tension Emphysema in Infancy Congenital Pulmonary
Emphysema CLE Respiratory Distress Syndrome Infant Bronchial Asthma Pneumonia
Interstitial Pneumonia Secondary Pulmonary Hypertension Cor Pulmonale
Alpha-1-Antitrypsin Deficiency}
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

922:
Emphysema, Congenital Lobar

** IMPORTANT **
It is possible that the main title of the article (Congenital Lobar
Emphysema) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

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

Information on the following diseases can be found in the Related
Disorders section of this report:

     Respiratory Distress Syndrome, Infant
     Bronchial Asthma
     Pneumonia
     Interstitial Pneumonia
     Secondary Pulmonary Hypertension
     Cor Pulmonale
     Alpha-1-Antitrypsin Deficiency

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Congenital Lobar Emphysema is a respiratory disorder of varying degrees
of severity which allows air to enter the lungs but not to escape.  It is
sometimes apparent at birth or shortly after birth.  In others it doesn't
become apparent until adulthood or may not cause any breathing difficulties
at all.  It may be so severe as to cause associated heart problems or be so
mild as to never become apparent.  Congenital Lobar Emphysema may be caused
by hereditary transmission or occur for no apparent reason.

Symptoms

Congenital Lobar Emphysema is characterized by difficulty breathing, an
enlarged chest area over the affected lobe of the lung and displacement of
the space in the lung section nearest to the diseased lobe.  The infant may
have more severe difficulty breathing when a cold or respiratory infection
occurs, when he is trying to eat, or when crying.  The disorder most often
affects the left side of the lung in the upper lobe.  The second most often
affected section of the lung is the middle right lobe.  There may be an
absence of bronchial cartilage, or too much connective tissue within the
lung.  The lung tissue may be very fragile and it may collapse easily.

Causes

Congenital Lobar Emphysema may result from unknown causes or it may be caused
by inherited genes.  Many cases are sporadic, (unknown causes) however, some
are inherited by autosomal recessive genes and in at least one case autosomal
dominant genes.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.  In dominant disorders a single copy of the disease gene (received
from either the mother or father)  will be expressed "dominating" the other
normal gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from the same trait from each parent.  If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will not show symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

Congenital Lobar Emphysema is a very rare disorder that affects males and
females in equal numbers.  It is usually apparent at birth or shortly after,
however, it may not become apparent until later in life if at all.

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).

Therapies:  Standard

Treatment of Congenital Lobar Emphysema depends on the condition of the
patient at the time of diagnosis.  When the disease effect is less serious it
may not cause any adverse effects.  However, when the condition is seriously
affecting the patients ability to breathe the usual treatment is the surgical
removal of the affected lobe of the lung or the whole affected side of the
pair of lungs.  The extent of disease is usually determined by use of
computed tomography (CAT SCAN) and radionuclide V/Q scans.  The V/Q 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.

Therapies:  Investigational

Investigational Treatment of Congenital Lobar Emphysema with the orphan drug
alpha 1-proteinase inhibitor 2,3 (Prolastin) is being studied.  The product
is manufactured by Cutter Biological a division of Miles Labs.  Further
studies are necessary to determine the long-term safety and effectiveness of
this therapy.

This disease entry is based upon medical information available through
July 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Congenital Lobar Emphysema, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Heart, Lung and Blood Institute (NHBLI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     American Lung Association
     1740 Broadway
     New York, NY 10019
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 294, 1238.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1083-1084.

PULMONARY DISEASES AND DISORDERS, 2nd Ed.; Alfred P. Fishman, M.D.,
Editor; McGraw-Hill Book Company, 1988.  Pp. 1259-1269.

CONGENITAL LOBAR EMPHYSEMA, Lacquet, L.K., et al.; Prog Pediatr Surg,
1977, (issue 10).  Pp. 307-320.

CONGENITAL LOBAR EMPHYSEMA.  THE ROLES OF CA AND V/Q SCAN., Markowitz,
R.I., et al.; Clin Pediatr, January 1989, (issue 28 (1)).  Pp. 19-23.