Cystic Fibrosis

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• Cystic Fibrosis

Presented By Pimanova Elena
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What is Cystic Fibrosis?

• Cystic fibrosis (CF) is
• most common lethal autosomal recessive disease
  in white populations, is characterized by
  dysfunctional chloride ion transport across
  epithelial surfaces due to CFTR gene mutation.
• this disease affects the lungs, digestive system,
  sweat gland, and male fertility

 
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Statistic

• Approximately 30,000 people in the United States
  have cystic fibrosis. An additional million more
  or about 1 in every 31 Americans carriers of
  the defective CF gene, but do not have the
  disease. The disease is most common in
  Caucasians, but it can affect all races.
• The table below shows the risk, based on broad
  ethnics groups in the United States, for carrying
  one CF mutation

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Causes

• CF is due to 1 common mutation (the delta-F508
  codon deletion) in the CF gene.
• CF gene has been located in chromosome region
  7q31.2.
• The official name of this gene is cystic
  fibrosis transmembrane conductance
  regulator(CFTR).
• CF is an autosomal recessive condition which
  means that a person needs to inherit two
  mutations to develop the condition.

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CFTR gene provides instructions for making a
channel that transports negatively charged
chloride ions into and out of cells.

• The flow of chloride ions helps control the
  movement of water in tissues and regulates the
  fluid consistency of mucus.
• Mutations in the CFTR gene disrupt the normal
  function of this channel, preventing the usual
  flow of chloride ions and water.

As a result, cells that line the passageways of
the lungs, pancreas, and others organs
produce mucus that is abnormally thick and
sticky. This mucus obstructs the airways and
glands, causing the characteristic signs and
symptoms of cystic fibrosis
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Signs and symptoms

• Lung Complications
• Persistent cough, excessive phlegm
• Wheezing, shortness of breath
• Frequent lung infections
• Chronic bronchoectasis (the build-up of
• mucus causes the bronchi to lose elasticity and
  therefore not function properly)
• Chronic sinusitis or asthma ( may cause by mild
  disease)
• Progressive lung deterioration
• Gastrointestinal Complications
• Poor absorption of nutritiens
• Large appetite with poor weight gain
• Poor growth
• Greasy, thick stools
• Meconium Ileus (obstructed intestine in
• newborns)
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• Fertility Issues
• CBAVD (congenital bilateral absence of the vas
  deferens)- cause infertility because even thought
  the sperm are present, part of the pathway to
  release the sperm is missing.
• Women with CF can bear children, but they can
  experience reduced fertility and pregnancy
  complications.

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Diagnosis

• The Sweat Test
• golden standard for CF
• It is a simple, non-invasive test that measures
  the amount of salt (sodium) in the sweat.
• The sweat test is not able to identify CF
  carriers
• The Genetic Test
• There are two ways to do genetic testing for
  CF
• taking sample of DNA using a cheek swab
• use blood samples to look at the same DNA.
• Other tests
• Fecal fat test
• Trypsin and chymotripsin test
• Secretin stimulation test
• Chest X-ray or CT scan
• Lung function test

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Treatment and prognosis

• The main goal is to prevent infections,
  reduce the amount and thickness of secretions in
  the lungs, improve airflow, and maintain adequate
  calories and nutrition.
• To accomplish these objectives, treatments
  for CF may include
• Antibiotics
• Mucus-thinning drugs
• Bronchodilatators
• Oral enzymes and better nutrition
• Lung transplantation
• Pain relievers
• Prognosis
• In 2006, the predicted median age of survival
  was 37 years.