Cystic fibrosis

What Is Cystic Fibrosis?

• A hereditary disorder affecting the exocrine glands.

• It causes the production of abnormally thick mucus, leading to the

blockage of the pancreatic ducts, intestine, and bronchi, and often
resulting in respiratory infection .

• Shows Autosomal recessive inheritance pattern

What Are the Signs and Symptoms of CF?
What Makes CF a Genetic Disease?

• Caused by abnormal gene mutation

• Follow the mendelain inheritance pattern.

• Starts with born (not acquired)

• Difficult to treat
Autosomal recessive inheritance
What Makes CF a Genetic Disease?
• A deletion of (3 base pairs) mutation in the gene on locus 7q31.2 lead
to abnormal product of the gene CFTR(cystic fibrosis transmembrane
regulator) which responsible for chloride ions movement across the
membrane.
• Abnormal form of CFTR result in blockage of movement of chloride
ions and water in lung and abnormal secretion of mucus.
• This mutation accounts for only 70-80% of all CF ,various other
mutation (over 400) responsible for the rest of CF cases.
Diagnosis of cystic fibrosis

• A sweat test : measures the amount of salt in sweat ,higher means

positive.

• Some patients have the same amount of salt level so need for another
test.

• A genetic test: testing for the faulty gene in the blood sample.

• Biochemical test for specific protein called (trypsinogen)..

Is It Possible to Detect CF in an Unborn
Baby?
• Yes, by prenatal genetic tests

• Very expensive and cannot detect all mutations

So Limited (only when another child from the family )

• There are two special types of prenatal tests

How Is CF Treated?
• Currently ,There is no known cure
• Doctors only describe drug for easing symptoms and controlling the
progression of the CF.
• This include antibiotic therapy to clear thick mucus in lung, advanced
cases can need lung transplantation
• Lifespan of the patient has increased to nearly 30 years
• Lung problem management by Physical exercise, medication to
reduce mucus, chest therapy
Gene Therapy—The Future of CF
Treatment?
• Gene therapy for CF is not yet possible but impressive progress is being
made in developing ways to treat the gene abnormality that causes CF. In
the laboratory
• scientists have been able to grow cells from the nasal passages of CF
patients. By introducing the normal gene into these cells
• researchers corrected the cells’ chloride transport abnormality. The
chloride defect has also been corrected in small regions in the nasal
passages themselves by giving CF patients the normal gene in nose drops
• Scientists are still looking for answers to many questions about gene
therapy.