Cystic fibrosis is caused by a genetic mutation that causes thick, sticky mucus to build up in the lungs and digestive tract. It is treated through airway clearance techniques like chest physiotherapy, antibiotics, anti-inflammatory drugs, nutritional supplements, and gene therapy. The goals of treatment are to clear mucus from the lungs, control infections, maintain lung function, and manage complications through a combination of medical and physical therapy approaches. While there is no cure, early diagnosis and comprehensive treatment can improve survival and quality of life for those living with cystic fibrosis.

1. Cystic Fibrosis
Presented by: Dr Ayesha Anwer Ali

2. INTRODUCTION
DEFINITION
SIGN AND SYMPTOM
DIAGNOSIS

3. INTRODUCTION
 Cystic fibrosis is an autosomal recessive disorder that
affects the epithelial cells of respiratory,
gastrointestinal and reproductive tract and leads to
abnormal exocrine gland secretions.
 It particularly damage the lungs, which leads to COPD in
childhood and early adulthood.
 Every person inherits two CF genes, i.e. one from each
parents. Children who inherit gene of CF from both the
parents will have CF.

4.  Carrier CF gene will not show any symptoms but will
pass the faulty gene to their offspring.
 In Cystic fibrosis, there will be the alterations in the
viscosity and tenacity of the mucus produced at
epithelial surface.
 It includes increased broncho-pulomonary secretions
and pancreatic insufficiency.

5. DEFINITION
 Cystic fibrosis (CF) is a genetic (inherited) and progressive disease, that
causes sticky, thick mucus to build up in organs, including the lungs and the
pancreas.
 It is caused by the defective gene i.e. CFTR and its protein which causes body
to produce abnormally thick and sticky mucous.
 Basic defect is a faulty chloride transport that causes mucus build up that
results in lung dysfunction, pancreatic insufficiency, intestinal disease and
infertility.

6. Sign and symptoms
 Poor growth
 Production cough
 Wheezing
 Breathlessness
 Sinus pain
 Recurrent pneumonia
 Nausea
 Fever
 Loss of appetite
 Vitamin deficiency

7. DIAGNOSIS
 In neonatal CF screening: A blood sample is taken from
the bottom of the baby’s foot or from the vain in the arm
which is then examined for increased level of
immunoreactive trypsinogen (IRT).
 Gold standard test is the sweat test which is used to
examine the electrolytes.
 Chloride greater than 60mmol/L, CF is diagnosed
Neonate: 30-59mmol/L Normal
Older than neonate: 40-59mmol/L Normal

8.  Chest X-ray: Inflated lungs, lungs fibrosis and
scarring.
 Other test:
Gene testing: small amount of fluid is taken from the
sac around the body to check if CFTR gene is normal.

10. Causes
In cystic fibrosis, a defect
(mutation) in a gene — the cystic
fibrosis transmembrane
conductance regulator (CFTR)
gene — changes a protein that
regulates the movement of salt in
and out of cells. The result is
thick, sticky mucus in the
respiratory, digestive and
reproductive systems, as well as
increased salt in sweat.

11. Many different defects can
occur in the gene. The type of
gene mutation is associated
with the severity of the
condition.
Children need to inherit one
copy of the gene from each
parent in order to have the
disease. If children inherit only
one copy, they won't develop
cystic fibrosis. However, they
will be carriers and could pass
the gene to their own children.

12. CF is caused by a mutation in the CF transmembrane conductance
regulator (CFTR) gene. The CFTR protein produced by this gene regulates
the movement of chloride and sodium ions across epithelial cell membranes.

14. MANAGEMENT

15. MANAGEMENT
There is currently no cure for cystic fibrosis, but a
number of treatments are available to help control
the symptoms, prevent complications and make the
condition easier to live with.
Early diagnosis and a complete treatment plan can
improve both survival and quality of life for the
person suffering from CF.

16. MEDICAL MANAGEMENT
 The goals of CF treatment include the following.
 The major goal in treating CF is to clear the abnormal and excess secretions, and
to prevent obstruction in the intestines.
 Maintaining lung function as near to normal as possible by controlling respiratory
infection and clearing airways of mucus.
 Administering nutritional therapy (i.e, enzymes supplements, multivitamins and
mineral supplements) to maintain adequate growth.
 Managing complications.

17. Antibiotics
 Oral antibiotics such as ciprofloxacin or azithromycin are given to help prevent infection or
to control ongoing infection.
 Inhaled therapy with antibiotics such as tobramycin, colistin, and aztreonam is often given for
months at a time to improve lung function by impending the growth of colonized bacteria.
 IV antibiotic therapy for severe infection.
 Bronchodilators
 Relaxes smooth muscles in the airways.
 (Especially when bronchial hyper responsiveness is present)
 Inhaled beta 2 agonist: Albuterol, Ventolin and Proventil.
 Anticholinergic agents (ipratropium bromide, tiotropium).

18. Anti-inflammatory medicines
 NSAIDS such as ibuprofen and Corticosteroids reduces airway inflammation and
slow the progress of CF.
 CFTR potentiater therapy
 Cystic fibrosis transmembrane conductance regulator (CFTR) targets defective
CFTR protein.
 They improve lung function and prevent complications.
 Mucus thinner drugs
 Make it easier to clear the mucus from your airways. i.e. hypertonic saline.
 VITAMINS
 Fat soluble vitamins A,D,E and K water soluble biotin, folic acid, and vitamin C.

19. GENE THERAPY
Gene therapy is the use of normal
DNA to correct damaged genes that
cause disease.
The goal is to replace the defective
CF gene in the lungs to cure CF or
slow the progression of disease.

20. PHYSIOTHERAPY MANAGEMENT
The main aim of physiotherapy is to prevent
secondary complications and improve quality of
life by removing excessive mucus secretions,
Breathlessness, chest wall stiffness and maintain
or improve lung function.

21. PRICIPLES OF PHYSICAL THERAPY
MANAGEMENT
 The goals of long term management of the patient with cystic fibrosis include the
following.
 Maximize the patient’s quality of life, general health and well being and
physiological reserve capacity.
 Educate the patient and family about cystic fibrosis self management, Nutrition,
prevention of acute exacerbations of the disease, infection control and medications
uses.
 Optimize secretion clearance.
 Facilitate Mucociliary transport.

22.  Optimize alveolar ventilation.
 Optimize lung volume and capacities and flow rates.
 Maximize aerobic capacity and efficiency of oxygen transport.
 Optimize physical endurance and exercise capacity.
 Optimize general muscle strength.

23. ASSESSMENT
 Assess respiratory status; respiratory rate presence of
tachypnea, wheeze, cough, character of sputum, cyanosis,
oxygen saturation level.
 Breathlessness is assessed by Borg scale of perceived
exertion
 Quality of breath sound by auscultation.
 Ability to participate in activities of daily living, exercise
tolerance.
 Monitor ABG results.
 Regular assessment and monitoring is necessary during
physiotherapy treatment as the patient may require
supplemental oxygen, especially in advanced cystic
fibrosis.

24. CHEST PHYSIOTHERAPY
 A person suffering from CF will require intensive chest physiotherapy.
POSTURAL DRAINAGE
 Postural drainage is a technique in which different positions are assumed to facilitate the
drainage of secretions from the bronchial airways.
 Gravity helps to move the secretions to the trachea to be coughed up easily.
 The goal of postural drainage is to help drain mucus from the affected lobes into the
larger airways of the lungs so it can be coughed up more readily.
 All the patients do not require postural drainage for all the lung segments so the
procedure must be based on the clinical findings.
 In postural drainage the person is tilted or propped at an angle to help drain secretions
from the lungs.

26. PERCUSSION
 Chest percussion involves
rhythmically clapping on the chest
wall over the area being drained to
force secretions into larger airways
for expectoration.
 Position the hand so the fingers and
thumb touch and hands are cupped.
 Perform chest percussion by
vigorously striking the chest wall
alternatively with cupped hands.
 The procedure should produce a
hollow sound and should not be
painful.

28. ACTIVE CYCLE OF BREATHING TECHNIQUE (ACBT)
 This technique consist of Breathing Control (BC), Thoracic Expansion
Exercises (TEE), and Forced Expiration Technique (FET).

29. AUTOGENIC DRAINAGE
 AD is a diaphragmatic breathing pattern used by patient with
respiratory illnesses (e.g. cystic fibrosis and bronchiectasis) to
clear the lungs of mucus and other secretions.
 It consists of three stages.
 Stage1 Unstick secretions
 Stage2 Collect secretions
 Stage3 Evacuate secretions

30. POSITIVE EXPIRATORY PRESSURE
 A technique that helps to open
up airways and get air behind
secretions to help move them
higher up the airway.
 The PEP device (mask or
mouthpiece) gives a small
degree of resistance to the
breath out and this resistance
splints open the airways.
 Bubble PEP is used in young
children and involves the child
blowing through a straw placed
in a bottle of water and soap to
produce bubbles.

31. AEROBIC EXERCISES
 Aerobic exercises is beneficial for cystic fibrosis.
 Encourage aerobic exercises: participating in physical activities or
do exercises such as walking, running, swimming, jogging etc.
 It improves lung function and It can help lower your risk of
developing CF-related diabetes or cardiovascular disease and
enhance your overall survival rate.

32.  Exercises plays an important role in the management of cystic fibrosis
through all stages of disease to improve general physical fitness and
strength and muscle endurance and promote feeling of well being.
 Posture and trunk mobility exercises should be encouraged to try to
maintain flexibility of thoracic spine.
 Strength training is strongly correlated with strength gain which is
important to prevent deconditioning.
 A patient who has exercise induced asthma should remember to inhale
his bronchodilator before starting any exercise.
 For chest wall stiffness manual therapy techniques is used it may
increase thoracic mobility in pts with cystic fibrosis and may improve
lung function.

33. SURGICAL MANAGEMENT
 LUNG TRANSPLANTION
 In severe cases of cystic fibrosis, when lungs stop working
properly and all medical treatments have failed to help lung
transplant may be recommended.
 A lung transplant is a serious operation that carries risks, but it
can generally improve the quality of life for people with cystic
fibrosis.