Cystic Fibrosis

Alternative names for the disease:
Cystic fibrosis (CF)
Cystic fibrosis of the pancreas
Mucoviscidosis
Cystic fibrosis transmembrane conductance regulator (CFTR)

Respiratory problems:
Chronic infections of the lungs
Emphysema
Progressive respiratory insufficiency

Gastrointestinal problems (including pancreas and liver):
Pancreatic insufficiency (with no secretion of trypsin and other digestive enzymes into the intestine)
Intestinal obstruction at birth (due to this lack of digestive enzymes)
Continuing deficiency of pancreatic enzymes
Biliary tract obstruction (blockage of the bile system)
Constriction of the common bile duct
Cirrhosis of the liver (of the type called biliary cirrhosis)
Recurrent episodes of pain in the right lower part of the abdomen (mimicking appendicitis)
Adenocarcinoma of the ileum, a part of the small intestine (a rare problem)

Heart problem:
Cor pulmonale (progressive overwork and failure of the right side of the heart from the task of pumping blood through the diseased lungs)

Reproductive problem:
Infertility of males

Laboratory findings:
Positive sweat test for CF (due to salty sweat)
Lack of trypsin in the stool (and high level of trypsin in blood serum)
DNA testing for CF (demonstrates the presence of the common delta-F508 codon deletion or one of the other variant CF mutations)

Inheritance:
Autosomal disease (gene on an autosome, a non-sex chromosome)
Boys and girls therefore have an equal chance of CF
Recessive disease (one copy of the CF gene in the presence of the normal paired gene does not result in CF)
Parents are carriers (each has one copy of the CF gene but no symptoms)
Carrier parents, each with a CF gene, have 25% chance of having a CF child with each pregnancy
The CF child has two CF genes; one from each parent

Molecular genetics:
CF gene has been located in chromosome region 7q31.2
CF gene has been isolated
CF gene(s) have been sequenced
CF is due to 1 common mutation (the delta-F508 codon deletion) in the CF gene
CF can also be due to any 1 of many other (variant) mutations in the CF gene
CF gene is concerned with transmembrane conductance regulation

Diagnosis and Treatment:
Diagnosis of CF should be made as early as possible.
Treatment of CF should start as early as possible
Much can be done medically to benefit a child (or adult) with CF
Intestinal obstruction at birth can be relieved by surgery
Pancreatic enzymes can be provided simply by mouth
Many respiratory problems can be prevented by good pulmonary care
Respiratory infections can be promptly treated
No cure is yet available for CF

Cystic Fibrosis At A Glance

• Cystic fibrosis (CF) is one of the most common serious genetic (inherited) diseases.
• CF gene is carried by 1/20 persons (in Caucasian populations) and 1 in 400 couples is at risk for having children with CF.
• CF is characterized by the production of abnormal secretions leading to mucous build-up.
• CF mucous build-up can impair the pancreas and, secondarily, the intestine.
• CF mucous build-up in lungs can impair respiration.
• Early diagnosis of CF is of great importance.
• Early and continuing treatment of CF is valuable.

For more information about Cystic Fibrosis, please visit the following site:

Cystic Fibrosis Foundation (U.S.)

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Last Editorial Review: 4/15/2002