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    Cystic Fibrosis

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    Ieva Petrylaite
    Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene that results in sticky mucus buildup in the lungs and digestive tract, leading to progressive disability and death. It is a recessive disease most common in Caucasians, and children have a 25% risk if both parents are carriers. Symptoms include coughing, wheezing, pneumonia and poor growth due to mucus blockage in organs like the lungs and pancreas.

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    Cystic Fibrosis

    Uploaded by

    Ieva Petrylaite
    17 views22 pages
    Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene that results in sticky mucus buildup in the lungs and digestive tract, leading to progressive disability and death. It is a recessive disease most common in Caucasians, and children have a 25% risk if both parents are carriers. Symptoms include coughing, wheezing, pneumonia and poor growth due to mucus blockage in organs like the lungs and pancreas.

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    Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene that results in sticky mucus buildup in the lungs and digestive tract, leading to progressive disability and death. It is a recessive disease most common in Caucasians, and children have a 25% risk if both parents are carriers. Symptoms include coughing, wheezing, pneumonia and poor growth due to mucus blockage in organs like the lungs and pancreas.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    17 views22 pages

    Cystic Fibrosis

    Uploaded by

    Ieva Petrylaite
    Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene that results in sticky mucus buildup in the lungs and digestive tract, leading to progressive disability and death. It is a recessive disease most common in Caucasians, and children have a 25% risk if both parents are carriers. Symptoms include coughing, wheezing, pneumonia and poor growth due to mucus blockage in organs like the lungs and pancreas.

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    CYSTIC FIBROSIS

    CONTENTS

    1. Cystic Fibrosis
    2. Etiology
    3. Risk factors
    4. Pathophysiology/disease mechanism
    5. Symptoms
    6. Diagnosis
    7. Treatment
    8. Quiz
    CYSTIC FIBROSIS
    (CF)

    • Common recessive genetic disease


    • Sticky mucus build up in the lungs/digestive
    tract

    Results in:
    • Progressive disability
    • Decreased fertility
    • Death

    In U.S.- 30,000 Americans suffer from CF

    Recessive genetic disease- recesyvinė genetinė liga


    Sticky mucus- lipnios gleivės
    Progressive disability- progresuojatis neįgalumas
    ETIOLOGY

    • Caused by a mutation in the gene coding for the


    Cystic Fibrosis conductance regulator (CFTR)
    protein

    • Mucus build up is seen in the respiratory airways of


    the lungs and in the pancreas

    • Accumulation of mucus may also be seen in the


    stomach and small intestine

    Etiology- etiologija (ligos priežastis/kilmė)


    (CFTR)-Cystic Fibrosis transmembrane conductance regulator
    (cistinės fibrozės transmembraninį laidumą reguliuojantis baltymas)
    RISK FACTORS

    • Family history- CF is an inherited illness


    that runs in the family tree
    • Race – although all can be affected, CF
    tends to be most common in white
    population of Northern European ancestry.

    Inherited illness- paveldima liga


    PATHOPHYSIOLOGY/DISEASE
    MECHANISM

    CFTR loses its function as chloride ions transported due to misfolded protein

    Abnormal sodium and chloride transport across cell membrane , causing thick mucus secretions in the lungs and pancreas

    Thick secretions that are difficult to remove

    Airway obstructions- frequent respiratory infections


    Occlusion of pancreatic ducts

    Pathophysiology- patologinė fiziologija


    Misfolded protein- netinkamai susilankstęs baltymas
    Obstruction (syn. Occlusion)- obstrukcija/ užsikimšimas
    Pancreatic Ducts- kasos latakai
    SYMPTOMS

    • Coughing and build up of mucus in the lungs, sinuses


    • Fatigue
    • Recurrent episodes of pneumonia
    • Dyspnoea
    • Wheeze

    In newborns:
    • Delayed growth
    • Failure to gain weight
    • No bowel movement

    Dyspnoea –breathlessness (dusulys)


    Wheeze- A whistling sound made during respiration (švokštimas)
    DIAGNOSIS: NEWBORNS

    • Newborn Screening Test (APRMB test)


    • Genetic testing
    • Sweat test
    • Sputum test

    Newborn screening test-screening in infants shortly after birth for conditions that are treatable, but not
    clinically evident (išplėstinė naujagimo patikra)
    Sweat and sputum test- measures the amount of chloride in sweat (prakaito ir seilių tyrimas)
    DIAGNOSIS: ADULTS

    • Computerised tomography (CT)


    • Magnetic resonance imaging (MRI)
    • Chest x-rays

    Computerised tomography(CT)- kompiuterinė tomografija


    Magnetic resonance imaging (MRI)- magnetinio rezonanso tomografija
    Chest x-rays- krūtinės rentgenas
    Pulmonary trunk- plaučių kamienas
    TREATMENT

    • Azithromycin
    Antibiotics Helps in prevention of lung/sinus infection

    Anti-inflammatory • Steroid and ibuprofen


    Helps to reduce inflammation caused by infections
    drugs
    • Mucolytics like Bisolvon
    Inhaled medicines Help to clear mucus from the airways

    Oxygen • May be needed as lung disease worsens


    • CF vests allow for expectoration of mucus
    therapy/VEST therapy
    • Requires surgery
    Lung transplantation

    Expectoration- atkosėjimas
    1. WHAT IS CYSTIC FIBROSIS?

    • A- Digestive tract complication

    • B- Chronic inflammatory lung-disease

    • C- Recessive genetic disease that damages your lungs, digestive tract and other organs

    • D- Bacterial infection
    WHAT IS CYSTIC FIBROSIS?

    • A- Digestive tract complication

    • B- Chronic inflammatory lung-disease

    • C- Recessive genetic disease that damages your lungs, digestive tract and other organs

    • D- Bacterial infection
    2. WHAT IS THE MAIN CAUSE OF CF?

    • A- Mucus build up

    • B- Mutation in CFTR gene

    • C- Pneumonia

    • D- Migraine
    WHAT IS THE MAIN CAUSE OF CF?

    • A- Mucus build up

    • B- Mutation in CFTR gene

    • C- Pneumonia

    • D- Migraine
    3. WHAT ARE THE TWO MAIN RISK
    FACTORS ASSOCIATED WITH CF?

    • A- Race

    • B- Eating habits

    • C- Lack of exercise

    • D- Family history

    • E- Weight

    • F- Patients’ IQ
    WHAT ARE THE TWO MAIN RISK
    FACTORS ASSOCIATED WITH CF?

    • A- Race

    • B- Eating habits

    • C- Lack of exercise

    • D- Family history

    • E- Weight

    • F- Patients’ IQ
    4. IN A CASE OF BOTH PARENTS BEING CARRIERS OF
    CF-CAUSING GENE, WHAT IS THE POSSIBILITY OF A
    CHILD DEVELOPING CYSTIC FIBROSIS?

    • A- 50%

    • B- 30%

    • C- 100%

    • D- 15%

    • E- 25%
    IN A CASE OF BOTH PARENTS BEING CARRIERS OF CF-
    CAUSING GENE, WHAT IS THE POSSIBILITY OF A
    CHILD DEVELOPING CYSTIC FIBROSIS?

    • A- 50%

    • B- 30%

    • C- 100%

    • D- 15%

    • E- 25%
    DO YOU THINK THIS PATIENT HAS CF?

    • A 5 year old male is borough to the clinic because he has been having
    a worsening productive cough for the past 2 days. Last year he was
    diagnosed with a pneumonia on a chest X-ray. Since then, the patient
    has had 3 more cases of pneumonia, each that have required antibiotics
    in order to improve symptoms. He is also found to have high sodium
    chloride content in his sweat.
    DO YOU THINK THIS PATIENT HAS CF?

    • A 5 year old male is borough to the clinic because he has been having
    a worsening productive cough for the past 2 days. Last year he was
    was diagnosed with a pneumonia on a chest X-ray. Since then, the
    patient has had 3 more cases of pneumonia, each that have required
    antibiotics in order to improve symptoms. He is also found to
    have high sodium chloride content in his sweat.
    REFERENCES

    • https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-caus
    es/syc-20353700

    • https://www.hopkinsmedicine.org/health/conditions-and-diseases/cystic-fibrosi
    s

    • https://www.nhs.uk/conditions/cystic-fibrosis/#:~:text=Cystic%20fibrosis%20i
    s%20a%20genetic,the%20lungs%20and%20digestive%20system
    .

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