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What is cystic fibrosis?
Cystic fibrosis is an inherited
disease of the mucus glands that
affects many body systems. The
disorder's most common signs and
symptoms include progressive damage
to the respiratory system and
chronic digestive system problems.
Mucus is a slippery substance that
lubricates and protects the linings
of the airways, digestive system,
reproductive system, and other
organs and tissues. In people with
cystic fibrosis, the body produces
mucus that is abnormally thick and
sticky. This abnormal mucus can
obstruct the airways, leading to
severe problems with breathing and
bacterial infections in the lungs.
These infections cause chronic
coughing, wheezing, and
inflammation. Over time, mucus
buildup and infections result in
permanent lung damage, including the
formation of scar tissue (fibrosis)
and cysts in the lungs.
Most people with cystic fibrosis
also have digestive problems because
thick, sticky mucus interferes with
the function of the pancreas. The
pancreas is an organ that produces
insulin (a hormone that helps
control blood sugar levels). It also
makes enzymes that help digest food.
In people with cystic fibrosis,
mucus blocks the ducts of the
pancreas, preventing these enzymes
from reaching the intestines to aid
digestion. Problems with digestion
can lead to diarrhea, malnutrition,
poor growth, and weight loss. Some
babies with cystic fibrosis have
meconium ileus, a blockage of the
intestine that occurs shortly after
Cystic fibrosis used to be
considered a fatal disease of
childhood. With improved treatments
and better ways to manage the
disease, many people with cystic
fibrosis now live well into
adulthood. Adults with cystic
fibrosis experience medical problems
affecting the respiratory,
digestive, and reproductive systems.
For example, most men with cystic
fibrosis are unable to father
children (infertile) because the
tubes that carry sperm (the vas
deferens) are blocked by mucus and
do not develop properly. This
condition is known as congenital
bilateral absence of the vas
deferens (CBAVD). Infertility is
also possible, though less common,
in women with cystic fibrosis.
How common is cystic fibrosis?
Cystic fibrosis is a common genetic
disease within the Caucasian (white)
population in the United States. The
disease occurs in 1 in 2,500 to
3,500 Caucasian newborns. Cystic
fibrosis is less common in other
ethnic groups, affecting about 1 in
17,000 African Americans and 1 in
31,000 Asian Americans.
What genes are related to cystic
Mutations in the
gene cause cystic fibrosis.
The CFTR gene provides instructions
for making a channel that transports
negatively charged particles called
chloride ions into and out of cells.
The flow of chloride ions helps
control the movement of water in
tissues, which is necessary for the
production of thin, freely flowing
Mutations in the CFTR gene
disrupt the function of the chloride
channels, preventing them from
regulating the flow of chloride ions
and water across cell membranes. As
a result, cells that line the
passageways of the lungs, pancreas,
and other organs produce mucus that
is unusually thick and sticky. This
mucus clogs the airways and glands,
causing the characteristic signs and
symptoms of cystic fibrosis.
Other genetic and environmental
factors likely influence the
severity of the condition. For
example, mutations in genes other
than CFTR might help explain why
some people with cystic fibrosis are
more severely affected than others.
Most of these genetic changes have
not been identified, however.
Read more about the
How do people inherit cystic fibrosis?
This condition is inherited in an
autosomal recessive pattern, which
means both copies of the gene in
each cell have mutations. Most
often, the parents of an individual
with an autosomal recessive
condition each carry one copy of the
mutated gene, but do not show signs
and symptoms of the condition.
What is celiac disease?
Celiac disease is a digestive disease that damages the small
intestine and interferes with absorption of nutrients from food.
People who have celiac disease cannot tolerate a protein called
gluten, found in wheat, rye, and barley. Gluten is found mainly in
foods but may also be found in products we use every day, such as
stamp and envelope adhesive, medicines, and vitamins.
The small intestine is shaded above.
When people with celiac disease eat foods or use products containing
gluten, their immune system responds by damaging the small
intestine. The tiny, fingerlike protrusions lining the small
intestine are damaged or destroyed. Called villi, they normally
allow nutrients from food to be absorbed into the bloodstream.
Without healthy villi, a person becomes malnourished, regardless of
the quantity of food eaten.
Villi on the lining of the small intestine help absorb nutrients.
Because the body’s own immune system causes the damage, celiac
disease is considered an autoimmune disorder. However, it is also
classified as a disease of malabsorption because nutrients are not
absorbed. Celiac disease is also known as celiac sprue, nontropical
sprue, and gluten-sensitive enteropathy.
Celiac disease is a genetic disease, meaning it runs in families.
Sometimes the disease is triggered—or becomes active for the first
time—after surgery, pregnancy, childbirth, viral infection, or
severe emotional stress.
What are the symptoms of celiac disease?
Celiac disease affects people differently. Symptoms may occur in the
digestive system, or in other parts of the body. For example, one
person might have diarrhea and abdominal pain, while another person
may be irritable or depressed. In fact, irritability is one of the
most common symptoms in children.
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