Cystic fibrosis presentation for MSc nursing students

2. CYSTIC
FIBROSIS
PRESENTED BY:
Zuricka Da Costa
M.Sc 2nd Year
F.M.C.O.N
2

3. INTRODUCTION
• Cystic fibrosis also
known as CF or
mucoviscidosis is a
common recessive
genetic disease which
affects the entire body,
causing progressive
disability and often early
death
5/14/2021
3
CYSTIC FIBROSIS

4. DEFINITION
• Cystic fibrosis is a congenital restrictive
lung disorder in which the secretions of
exocrine glands are abnormal. This
disorder affects the sweat glands,
respiratory system, digestive tract
(particularly the pancreas) and the
reproductive system
5/14/2021
4
CYSTIC FIBROSIS

5. 5/14/2021
5
CYSTIC FIBROSIS

6. • Cystic fibrosis is the most common fatal
autosomal recessive disease among the
Caucasian population.
• One in 31 Americans is an unknowing carrier of
this gene.
• Approximately 30,000 children and adults in
USA have CF and almost 1,000 cases being
newly diagnosed.
• CF is less frequently found in Hispanic, Asian
and African Americans.
• Used to considered as a “Paediatric problem”
because it was fatal in childhood.
5/14/2021
6
CYSTIC FIBROSIS

7. 5/14/2021
CYSTIC FIBROSIS
7

8. ETIOLOGICAL CAUSES
• Cystic fibrosis is an autosomal
recessive disease caused by
defects in the CFTR gene.
• Which encodes for a protein
that functions as a chloride
channel, and also regulates the
flow of other ions across the
apical surface of epithelial cells.
5/14/2021
8
CYSTIC FIBROSIS

9. • CFTR mutations. CFTR mutations result in
abnormalities of cAMP-regulated chloride
transport across epithelial cells on mucosal
surfaces; the failure of chloride conductance by
epithelial cells and associated water transport
abnormalities result in viscid secretions in the
respiratory tract, pancreas, GI tract, sweat
glands, and other exocrine tissues.
5/14/2021
9
CYSTIC FIBROSIS

10. 5/14/2021
10
CYSTIC FIBROSIS

11. 5/14/2021
11
CYSTIC FIBROSIS

12. 5/14/2021
12
CYSTIC FIBROSIS

13. 5/14/2021
13
CYSTIC FIBROSIS

14. 5/14/2021
14
CYSTIC FIBROSIS

15. CLINICAL MANIFESTATION
• Persistent cough that is worse at night and upon
arising.
• As CF progresses the cough becomes productive
and then oxysmal with gagging and emsis .
• Recurrent lung infections leads to tenacious
purulent often green sputum.
• Asthamatic wheezing
• Steatoeehea due to the involvement of
pancrease.
• Delayed puberty in both males and females.
5/14/2021
15
CYSTIC FIBROSIS

16. • Elevated levels of chloride in sweat.
• Loss of appetite
• Poor growth
• Poor weight gain despite normal food intake.
• Accumulation of thick and sticky mucus
• Shortness of breath
• Males can be infertile
5/14/2021
16
CYSTIC FIBROSIS

17. 5/14/2021
17
CYSTIC FIBROSIS

18. 5/14/2021
18
CYSTIC FIBROSIS

19. • History
• Physical examination
• Newborn screening test
• Genetic testing
• Non-invasive CFTR analysis
• Sweat test
• Sputum test
• CT
• MRI
• Chest x-ray
• Genotyping
5/14/2021
19
CYSTIC FIBROSIS

20. Newborn screening test
• Newborn screening (NBS) for cystic fibrosis is
done in the first few days after birth.
• By diagnosing CF early, CF health care providers
can help parents learn ways to keep their child as
healthy as possible and delay or prevent serious,
lifelong health problems related to CF.
• Research shows that children who receive CF care
early in life have better nutrition and are healthier
than those who are diagnosed later.
5/14/2021
20
CYSTIC FIBROSIS

21. • Newborn screening is done during the first few
days of your baby's life usually by a health care
provider in the hospital.
• A few drops of blood from a heel prick are placed
on a special card, called a Guthrie card.
• This card with your baby's information is mailed
to a special state laboratory that will test the
blood sample for certain health conditions,
including CF.
• In some states, newborn screening involves two
blood samples, one at birth and one a few weeks
later.
5/14/2021
21
CYSTIC FIBROSIS

22. 5/14/2021
22
CYSTIC FIBROSIS

23. • Every state's CF newborn screening program
begins with a blood test from the baby to check the
levels of a chemical made by the pancreas called
immunoreactive trypsinogen (IRT).
• IRT is normally found in small levels in the body.
• In people who have CF, IRT levels tend to be high
but IRT levels can also be high if a baby is
premature, had a stressful delivery, or other
reasons.
• Some states only test IRT levels on the first blood
test. These are called IRT-only states. Other states
conduct both an IRT and a DNA test. These are
called IRT-DNA states.
5/14/2021
23
CYSTIC FIBROSIS

24. • Results from newborn screening for CF can take
longer than one week after a blood sample is
collected.
• When high IRT levels are detected in the blood,
the results of the newborn screening are said to
be positive.
5/14/2021
24
CYSTIC FIBROSIS

25. 5/14/2021
CYSTIC FIBROSIS
25

26. Genetic testing
• To have cystic fibrosis, a child
must inherit one copy of the
cystic fibrosis transmembrane
conductance regulator (CFTR)
gene mutation from each parent.
• Those who have only one copy of
a CFTR gene mutation do not
have CF.
• They are called "CF carriers."
5/14/2021
26
CYSTIC FIBROSIS

27. 5/14/2021
27
CYSTIC FIBROSIS

28. • Genetic testing can be used to tell if a person
carries a mutation of the CFTR gene.
• The test looks at a person's DNA (genetic
material), which is taken from cells in a blood
sample or from cells that are gently scraped from
inside the mouth.
• A positive carrier test result for CF means that a
person has one mutation of the CFTR gene.
• If your test is negative for a mutation of the
CFTR gene, there is still a small chance you
could carry one CFTR mutation.
5/14/2021
28
CYSTIC FIBROSIS

29. Non-invasive CFTR analysis
• Noninvasive CFTR analysis
involves a technique for
recovering DNA from cells
obtained by buccal brushing.
• This technique can be used to
determine the carrier status of
the parents of a fetus with
suspected CF based on
sonographic findings of
meconium ileus.
5/14/2021
29
CYSTIC FIBROSIS

30. Sweat test
• The principal diagnostic test to
confirm CF is a sweat chloride
test using the pilocarpine
iontophoresis method to collect
sweat and perform a chemical
analysis of its chloride content is
currently considered to be the
only adequately sensitive and
specific type of sweat test.
5/14/2021
30
CYSTIC FIBROSIS

31. 5/14/2021
31
CYSTIC FIBROSIS

32. 5/14/2021
32
CYSTIC FIBROSIS

33. • The patient's skin (usually the forearm) is
washed with water and patted dry.
• A pad soaked in pilocarpine (chemical that
stimulates sweat glands) is placed on the skin.
An electrode creates a mild current that moves
the chemical through the skin into the area
where the sweat glands are. This procedure may
create a tingling or warm sensation and takes
about five minutes.
• The electrode and pad are removed. The area of
the skin that was stimulated has started to
sweat.
5/14/2021
33
CYSTIC FIBROSIS

34. • A piece of filter paper that was previously
weighed is placed over the area.
• The area is covered with plastic and tightly
bandaged. Sweat is collected for 30 minutes.
• The piece of filter paper is now filled with sweat.
It will be removed, weighed (to determine how
much sweat was obtained), and placed into
buffer so that the concentration of chloride can
be determined.
5/14/2021
34
CYSTIC FIBROSIS

35. What is being tested?
• The sweat chloride test measures the amount of
chloride in sweat.
• Chloride is part of the body's electrolyte balance
and combines with sodium to form the salt
found in sweat.
• People with cystic fibrosis (CF) have an elevated
level of chloride in their sweat.
• Normally, chloride travels in and out of the
body's cells, helping to maintain electrical
neutrality and water balance.
5/14/2021
35
CYSTIC FIBROSIS

36. • This movement occurs through a protein called the
cystic fibrosis transmembrane conductance
regulator (CFTR)
• It serves as a channel, letting chloride out of cells
and into the surrounding fluid and also reducing
sodium absorption.
• With dysfunctional or absent CFTR, chloride does
not move out of the ducts into surrounding fluid,
resulting in the production of thick, sticky mucus.
• Since CFTR levels are usually highest in the
epithelial cells lining the internal surfaces of the
bronchi of the lungs, pancreas, sweat glands,
salivary glands, intestine, and reproductive organs,
these are the areas most affected by CF
5/14/2021
36
CYSTIC FIBROSIS

37. • For reliable results, collect at least 50 mg or,
preferably, 100 mg of sweat.
• This test can be inaccurate in very young infants
or if an inadequate volume is collected.
• Never pool sweat from multiple sites to obtain the
required quantity because the rate of sweating
determines electrolyte content.
• The sweat chloride reference value is less than 30
mmol/L.
5/14/2021
CYSTIC FIBROSIS
37

38. • A value of more than 60 mmol/L of chloride in
the sweat is consistent with a diagnosis of cystic
fibrosis.
• The values of 30-60 mEq/L may represent
heterozygous carriers, these carriers cannot be
accurately identified with a sweat chloride test.
5/14/2021
CYSTIC FIBROSIS
38

39. Sputum test
• Children with cystic fibrosis
(CF) tend to get frequent
respiratory infections, sometimes
caused by bacteria or fungi.
• A sputum (mucus) CF respiratory
screen or culture helps doctors
detect and identify these bacteria
or fungi so they can prescribe the
most effective antibiotics to target
a specific infection.
5/14/2021
39
CYSTIC FIBROSIS

40. Chest X-ray
• On chest radiography, initial changes are
hyperinflation and peribronchial thickening.
• Pulmonary artery dilatation and right
ventricular hypertrophy associated with cor
pulmonale is usually masked by marked
hyperinflation.
• On sinus radiography, panopacification of the
sinuses is present in almost all patients with
cystic fibrosis, and its presence is strongly
suggestive of the diagnosis
5/14/2021
40
CYSTIC FIBROSIS

41. 5/14/2021
41
CYSTIC FIBROSIS

42. Genotyping
• Genotype testing is
recommended for
individuals with a positive
family history and for
couples planning a
pregnancy.
5/14/2021
42
CYSTIC FIBROSIS

43. 5/14/2021
43
CYSTIC FIBROSIS

44. Medical management
• Medications used to treat patients with cystic
fibrosis may include pancreatic enzyme
supplements, multivitamins (particularly fat-soluble
vitamins), mucolytics, antibiotics (including
inhaled, oral, or parenteral), bronchodilators, anti-
inflammatory agents, and CFTR potentiators.
5/14/2021
CYSTIC FIBROSIS
44

45. Antibiotics
5/14/2021
CYSTIC FIBROSIS
45

46. • Tobramycin: The usual dose is 300 mg inhaled
via nebulization twice daily administered during
alternate months.
• Aztreonam is indicated to improve respiratory
symptoms in patients with CF who are infected
with P aeruginosa. Dose is 75mg
5/14/2021
CYSTIC FIBROSIS
46

47. Bronchodialators
• Inhaled beta2-agonists are often administered
before chest physical therapy for airway clearance.
• In children with CF, the use of bronchodilators
must be evaluated.
• Children with bronchiectasis may have a paradoxic
bronchodilatation in response to beta-adrenergic
agents.
• Pulmonary function testing before and after
bronchodilators is suggested to avoid these
counterproductive effects.
5/14/2021
CYSTIC FIBROSIS
47

48. • Albuterol is the most commonly used
bronchodilating agent.
• It is available in multiple dosage forms (eg,
solution for nebulization, metered-dose inhaler,
PO solution).
• Typically, 2.5 mg of albuterol nebulizer solution
is used either in premixed solution with isotonic
sodium chloride solution or 0.5 mL of albuterol
solution is mixed with 3 mL of 0.9% NaCl and
administered before chest physical therapy.
5/14/2021
CYSTIC FIBROSIS
48

49. Pancreatic Enzyme
• These agents aid digestion when the pancreas is
malfunctioning.
• Current pancreatic enzyme preparations are
derived from porcine extracts and contain
various proportions of lipase, amylase, and
protease.
• Usually, the dose of pancreatic enzymes should
not exceed 2000 U/kg/meal of lipase.
5/14/2021
CYSTIC FIBROSIS
49

50. Vitamins
• Vitamin deficiency may result
from an inadequate diet,
increased requirements (eg,
pregnancy, lactation), or
secondary to disease or drug
use.
• Vitamins are clinically used
for the prevention and
treatment of specific vitamin
deficiency states.
5/14/2021
CYSTIC FIBROSIS
50

51. Mucolytic Agents
• Large amounts of neutrophil-derived DNA released
from dead neutrophils increase sputum viscosity.
• Mucolytics, such as dornase alfa, an enzyme that
hydrolyses the DNA, are used in patients with CF to
improve airway clearance.
• The Pulmonary Therapies Committee of Cystic
Fibrosis Foundation recommends long-term use of
hypertonic saline for patients with cystic fibrosis
aged 6 years or older to improve lung function and
to reduce the number of exacerbations.
5/14/2021
CYSTIC FIBROSIS
51

52. • Dornase alfa: solution, inhalation 1mg/mL
(2.5mL)
• Cystic Fibrosis: 2.5 mg nebulizer qDay or twice
daily if needed
5/14/2021
CYSTIC FIBROSIS
52

53. Other treatments
• Diet. In general, a normal diet with additional
energy and unrestricted fat intake is
recommended; a high-energy and high-fat diet,
in addition to supplemental vitamins (especially
fat soluble) and minerals, is recommended to
compensate for malabsorption and the increased
energy demand of chronic inflammation.
5/14/2021
CYSTIC FIBROSIS
53

54. • Exercise. Regular exercise increases physical
fitness in patients with cystic fibrosis; upper
body exercises, such as canoe paddling, may
increase respiratory muscle endurance.
• Monitoring. Patients are monitored in the CF
clinic every 2-3 months to achieve maintenance
of growth and development, maintenance of as
nearly normal lung function as possible,
intervention and retardation of the progression
of lung disease, clinical assessment to monitor
gastrointestinal tract involvement, and
monitoring for complications and their
treatment .
5/14/2021
CYSTIC FIBROSIS
54

55. • Vaccines. Routine vaccinations are indicated in
patients with cystic fibrosis, including seasonal
influenza vaccination.
• Chest Physiotherapy: Chest physio along
with percussion and postural drainage is used to
promote airway clearance.
• Newer techniques include the HUFF COUGH
technique with specified breathing patterns or
cycles.
• The "Vest Airway Clearance System", a form
of chest wall oscillation, is a device and system
for clearing excess mucus from lung airways.
5/14/2021
55
CYSTIC FIBROSIS

56. 5/14/2021
CYSTIC FIBROSIS
56

57. • Oxygen therapy may be required for hypoxemia.
• A liberal fluid intake helps reduce the viscosity
of mucous secretions.
• Enteral or parental nutrition may be required
during acute exacerbations of the disease.
5/14/2021
CYSTIC FIBROSIS
57

58. 5/14/2021
CYSTIC FIBROSIS
58

59. NURSING DIAGNOSIS
• Ineffective airway clearance related to thick,
tenacious mucus production.
• Ineffective breathing pattern related to
tracheobronchial obstruction.
• Risk for infection related to bacterial growth
medium provided by pulmonary mucus and
impaired body defenses.
5/14/2021
CYSTIC FIBROSIS
59

60. • Imbalanced nutrition:less than body
requirements related to impaired absorption
of nutrients.
• Anxiety related to hospitalization.
• Compromised family coping related to
child’s chronic illness and its demands on
caregivers.
• Deficient knowledge of the
caregiver related to illness, treatment, and
home care.
5/14/2021
CYSTIC FIBROSIS
60

61. CONTINUITY OF CARE
• Education of the family and the patient is very
important.
• Respiratory techniques including percussion,
postural drainage and controlled cough
techniques.
• Importance of avoiding respiratory irritants like
smoke, dust etc.
• Immunization as a measure to protect from
recurrent infection
5/14/2021
CYSTIC FIBROSIS
61

62. • Avoid large crowd gathering.
• Refer dietician for the planning and teaching to
maintain adequate nutrition and minimize
gastrointestinal symptoms.
• Refer for genetic counselling and possible
genetic testing..
• Provide support as needed.
5/14/2021
CYSTIC FIBROSIS
62

63. COMPLICATIONS
5/14/2021
CYSTIC FIBROSIS
63

64. RESEARCH ARTICLE
Researchers develop potential antibiotic
for drug-resistent pathogen
Scientists from Johns Hopkins University and
Medicine have developed a possible new
antibiotic for a pathogen that is notoriously
resistant to medications and frequently lethal for
people with cystic fibrosis and other lung
ailments.
5/14/2021
CYSTIC FIBROSIS
64

65. • The pathogen, called Mycobacterium abscessus,
is related to a better-known bacterium that
causes tuberculosis and leprosy but has recently
emerged as a distinct species presenting most
often as a virulent lung infection.
• The team has developed one of the first potential
treatments of a bacterium that has no FDA-
approved treatments and a cure rate less than
50%.
• Before the compound, called T405, can move
closer to becoming a clinical treatment,
researchers need to improve its pharmacological
potency using a preclinical animal model of the
infection.
5/14/2021
CYSTIC FIBROSIS
65

66. 5/14/2021
CYSTIC FIBROSIS
66