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CYSTIC FIBROSIS
OUTLINE Case Study
Causes
Pathological Changes
Signs & symptoms
Role of physiotherapist
Medical Management
Statistics
Psychosocial Implications
Cystic Fibrosis Case Study WM a 22 year old female with CF
3 day history of
• cough
• Purulent sputum production
• Shortness of breath
Hyperglycemia- glucose levels: 250-400 mg/dl
Anorexia & 8 pound weight loss in the last month
Evaluated & diagnosed with a CF exacerbation & admitted
5 day hospital admission, she received
•Intravenous antibiotics
•Respiratory treatments
•Aggressive chest percussion
to improve her airway clearance
Appetite improved, but her weight remains stable since admission at 104 pounds
Past History
• 8 months old, she was admitted to Barnes-Jewish Hospital
• Chronic cough & diarrhea for almost a week
• In addition, her parents said she would sometimes “wheeze” a lot more than was normal for a child with a cold
Attending pediatrician
• possible ear infection
• salt crystals on her skin
A pediatric pulmonologist examined the case thoroughly & discussed the case with the patient’s parents
• Parents:
• “Will our daughter be alright ?”
• “It’s just a cold after all, isn’t it ?”
• Doctor:
• More serious than a cold
• Trouble getting the mucus, or phlegm, out of lungs
• Inherited disease called Cystic Fibrosis
CYSTIC FIBROSIS???
Isn’t that caused by smoking????????
NO!!!!!
What is Cystic Fibrosis?
• CF by definition is the most common inherited, life threatening disease
• It affects the glands which secrete body fluids, causing damage to major organs including the lungs, pancreas & liver & the digestive & reproductive systems
• It affects the entire body, causing progressive disability & may lead to early death
IS THIS FATAL,DOCTOR?
• Not fatal in the short term• Your daughter will be fine for now.• No immediate danger• Treatment to help her live a relatively normal and
healthy life exist• In fact she was born with this disease caused by
faulty gene within her DNA and now it has begun to show itself
• Coughing as lungs filled with mucus• Lungs normally produce slightly viscous, more fluid-
type of mucus acts to trap debris & dust particles.
• This system keeps air passages clear
• In children mucus secreted into lungs more viscous + less fluid+less water than normal
• Hence tend to clog air passage and triggers a coughing reflex expel mucus from lungs.
But what causes CF?
• CF develop when a person inherits the genetic fault which causes CF from both parents.
• Ways in which our bodies develop determined by pairs of genes: One from motherOne from father• CF occurs in children who have inherited 2
abnormal copies of a specific gene, 1 from each parent.
• A parent who is a CF carrier but doesn’t have CF has 1
normal copy of this gene and 1 abnormal copy.
• The normal dominates so the parent shows no sign of CF.
• Carriers pass on either their normal or in some cases their abnormal copy of the CF gene to their child.
• Child receiving a normal copy from 1 parent and an abnormal copy from the other CF carrier.
• Child receiving abnormal gene from both parents develop CF.
Mother Father
25% chance of 50% chance of 25% chance of
Inheriting 2 inheriting 1 inheriting 2
Normal copies abnormal copy abnormal copies
& 1 normal copy
Both parents have an abnormal copy of the gene
Normal copy
Abnormal copy
key
PATHOLOGICAL CHANGES
SIGNS & SYMPTOMS
Role of CFTR protein
• A single amino acid mutation production of an abnormal transmembrane CFTR protein( cystic fibrosis transmembrane conductance regulator)
• CFTR protein transports chloride ions across epithelial cells in lungs & intestinal tract
• Since water follows ions by osmosis prevents water depletion & viscous mucus (CFTR prevents thick & sluggish mucus )
• CFTR protein helps to produce mucus complex mixture of salts, water, sugars & proteins that cleanses, lubricates & protects many passageways in the body, including lung + pancreas
Model of CFTR protein
Normal functioning of CF gene
• CF gene codes for chloride channel in apical membrane of epithelial cells in conducting airways
• Channel is controlled by cyclic adenosine monophosphate (cAMP) & indirectly by beta adrenoreceptor stimulation
• Controls quantity & solute content of airway – lining fluid
• Normal channels inhibit adjacent epithelial sodium channels
CF gene defect
• One of many CF gene defects cause absence or defective function of chloride channel
• Leading to chloride secretion & loss of inhibition of sodium channels
• + an excessive sodium reabsorption
• +dehydration of airway lining
• CF occurs when there is mutation in CFTR gene.
• Protein created by this gene anchored to the outer membrane of cells in sweat glands, lungs, pancreas & other affected organs.
• Protein spans this membrane + acts as a channel connecting the inner part of the cell (cytoplasm) to the surrounding fluid
• Channel primarily responsible for controlling movement of chloride from outside to inside cell.
• When CFTR stops working chloride trapped outside cell
• Since Chloride –vely charged +vely charged ions cannot cross cell affected by electrical attraction of the chloride ions
• Sodium most common ion in extracellular space & combination of sodium + chloride creates salt lost in amts in sweat of individuals with CF-in the case of WM
SODIUM REABSORPTION
• Moreover in CF, CFTR protein cannot allow chloride ions out of mucus producing cells.
• Less chloride ions leaving less water leaves
• Mucus thick & sticky
• No longer move freely through passageways clogged
• Mucus in lungs plug airways preventing good air exchange & ultimately leading to emphysema
DEHYDRATION OF AIRWAY LINING
Signs & Symptoms of CF
• CF symptoms do not follow the same pattern in all patients but affects different people in different ways to varying degrees
• Depend on age of individual
• Extent the disease affects specific organs
• Prior therapy
• Types of infections experienced
• CF affects entire body & impacts growth, breathing, digestion & reproduction
Newborn
• In the newborn the period is marked by
Poor weight gain Intestinal blockage
Accompanied by thick feces
• Other symptoms appear during the remainder of childhood & early adulthood:
• E.g:WM numerous hospitalizations for CF exacerbations, recently averaging 2 to 3 times per year
• Diagnosed with CF- related diabetes at age 14 & required insulin therapy intermittently for management of hyperglycemia
CF is often accompanied by the
following symptoms…
• Thick, viscous mucus secretions which accumulate in the intestines & lungs
Result malnutrition, poor growth, frequent respiratory infections, breathing difficulties & eventually permanent lung damage. Lung disease usual cause of death in most patients
• Repeated infections: accumulation of sticky, thick mucus in the lungs creates an unfavorable environment for infectious organisms to inhabit & flourish
• Stools, pale or clay colored, foul smelling, or stools that float
• Recurrent pneumonia
• Chronic cough, possibly with blood streaking
• Wheezing
• Bronchitis
• Chronic sinusitis Inflammation of the nasal sinuses cavities in the skull
behind, above & on both sides of the nose
• Asthma
• Nasal polyps Fleshy growths inside the nose
• Weight loss, failure to thrive in infants, abdominal swelling excessive salt in sweat, dehydration
• Abdominal cramping or pain, flatulence, gassiness (too much gas in intestine)
• Fatigue
• Changes in color & amt of sputum
Clubbing
Rounding & enlargement of the fingers & toes
• Cor pulmonale Enlargement of right side of heart
• Rectal prolapse Protrusion of the rectum through anus
• Liver disease, diabetes, inflammation of the pancreas & gallstones
• Pneumothorax Rupture of lung tissue & trapping of air between lung &
chest wall
• Infertility
Role of physiotherapist
in the management of
CF
past primary aim clear excessive secretions & thus, reduce respiratory symptoms
modern physiotherapy adequate combination of inhalation therapy, airway clearance techniques (ACTs), physical education/exercise & ongoing education about the disease & its treatment
physiotherapist involved in recording evaluation of patients, instructions given to them, quality control & professional development
role in consultation with patient & family tailor individualized, reasonable, effective & efficient physiotherapy program
physiological + psychosocial factors
Chest Physiotherapy
• integral part in management of CF
• aims reduce airway obstruction by
improving clearance of
secretions
reduce severity of infections
by clearing infected material
maintain optimal respiratory
function & exercise tolerance
Airway Clearance Techniques
Active Cycle of Breathing Techniques • consist of a combination of Deep Breathing
Exercises (DBE), Thoracic Expansion Exercises (TEE), Forced Expiratory Technique (FET) & breathing control
• gets air behind mucus, lowers airway spasm and clears mucus
• may be modified to suit all ages & individual needs
Thoracic Expansion
• exercises with emphasis on inspiration, expiration being quiet & relaxed
Forced Expiration Technique or Huff
used to mobilise & clear secretions
1 or 2 forced expirations are combined with a period of breathing control.
A huff from high lung volume (when a breath has been taken in) will clear secretions from the upper airways and a huff from mid to low lung volume will clear secretions from the lower more peripheral airways.
Postural Drainage
may be used in conjuction of other techniques, e.g. ACBT, PEP & percussion
involves positioning to allow gravity to assist drainage of secretions
Effective postural drainage equipment provided by CF unit for home use.
o Foam wedges / vinyl sag bags used between 18 months & 5 years
o As child older supplied with specially designed foldable bed frame, e.g. Chesham frame & Becky bed.
Percussion/Chest Clapping
can be performed with cupped hands over the area being drained
should be performed for approximately 15-20 sec with pauses for 5 sec or longer to minimise risk of desaturation in patients with moderate or severe lung disease
WM got percussion treatment
MEDICAL
MANAGEMENT
DIAGNOSIS Sweat test
• A small electrode is placed on the skin (on arm) to stimulate sweat glands. Sweat is then collected & amt of chloride, a component of salt in sweat is measured
+ve borderline -ve
>60mmol/L 40-60mmol/L <40mmol/L
In may 2005, US Food & Drug Administration approved the 1st DNA based test to help detect CF. the test looks for variations in a gene to cause the disease.
DIAGNOSIS Genetic test
• Blood sample or cells from inside the cheek is tested for various mutations of CF gene. The genetic test is used if results from a sweat test are unclear
Fecal Fat test
Upper GI & small bowel series
Measurement of pancreatic function
• An early diagnosis of CF & a comprehensive treatment plan can improve both survival & quality of life
• CF pulmonary disease is associated with viscous, purulent secretions
TREATMENT• Antibiotics for respiratory infections
• Pancreatic enzymes to replace those that are missing
• Vit supplements esp vit A, D,E & K
• Inhaled bronchodilators, e.g. albuterol, help to open airways
• DNAse enzyme replacement therapy. The medication dornase contains an enzyme that thins the mucus & makes it easier to cough up
TREATMENT• Pain relievers . Research has shown that the pain reliever
ibuprofen may slow lung deterioration in some children with CF. The results were most dramatic in children aged btw 5-13years
• Lung transplant (optional)
• Postural drainage & chest percussion
PEP Masks used to open up & recruit obstructed lung,
allowing air to move behind secretions & assist in mobilising them
Breathing out against a slight resistance (10-20 cm of water) prevents the smaller bronchial tubes from collapsing,thus permits the movement of any secretions
High-frequency Chest Wall Oscillation
• also called the Vest or Oscillator
• An inflatable vest is attached to a machine that vibrates it at high frequency.
• The vest vibrates the chest to loosen and thin mucus.
• Every five minutes the person stops the machine and coughs or huffs.
Flutter Device small plastic device containing a large ball bearing which
repeatedly interrupts the outward flow of air
This generates a controlled oscillating positive pressure which mobilises respiratory secretions.
A flutter session consists of about 10-15 breaths followed by huffing & breathing control.
This is repeated for 10 or 15 minutes depending on the individual need.
This term describes a series of breathing exercises devised by Belgian physiotherapist Jean Chevaillier.
Aim dislodge & collect mucus from the lungs & then clear these secretions at various lung volumes.
The person inhales to different levels and then adjusts how they breathe out to heighten airflow and move mucus. At first, AD takes hard work and practice. It is best for people over 8 years old.
Autogenic Drainage
physical training beneficial effects in CF patients
different types of exercise included in programme from the beginning are:
chest mobility exercises (including chest, spine, neck, shoulders, upper & lower limbs)
muscle strengthening exercises
working capacity training & exercises
Physical Activity
good chest mobility effective ACT, good posture reduces risk of back pain, physical loading in upright positions reduces risk of osteoporosis
physical exercise maintain high working capacity in spite of poor respiratory capacity
never uncomfortable
stimulating, enjoyable & age-appropriate
individualized & provided at appropriate times in different setttings
With modern treatment, many young CF patients have no regular
cough & produce no sputum.
However, there is evidence that even in patients with mild chest involvement, regular daily physiotherapy maintains the chest in better condition than when this treatment is omitted.
If patients have a productive cough, physiotherapy should be performed twice daily & more frequently with colds.
Regular monitoring of the patient’s and family’s technique by a physiotherapist who is an expert in the various techniques used for CF treatment, is very essential.
Incidence • CF is an autosomal recessive disorder with an
incidence of 1 in 2500 live births, corresponding to a carrier frequency of 1 in 25
• 1 in 2,000 newborns with CF annually – in whites
• 1 in 17,000 black births show CF condition
• 1 in 25 American whites carry the gene for a CF causing defect
• Very rare in Orientals & American Indians
In 2000, an analysis of CFTR mutation in 24 children with CF from the Indian subcontinent showed that of the
mutant chromosomes, 33.3% had delF508 mutation (kabra)
In 2005, Quint described mutation spectrum in Jewish CF patients living in Israel. Using a panel of 12 CFTR Ashkenazi Jewish patients, they identified:
CF alleles in Jewish patients (%)Ashkenazi Jewish North Africa Iraq
99 91 75In 2005, in a survey of 415 blood samples of randomly selected healthy individuals in Hanoi, Vietnam, Nam found no instance of deltaF508
Distribution
• Distribution of CFTR mutations varies according to the background of patient
• 508delF is most common in white population of Northern European origin
• Poorer nutritional status & pulmonary function in blacks than in whites
• Black people are diagnosed younger with CF• Whether this is genetic or due to socioeconomic
factors is unclear, low socioeconomic status is associated with significantly worse pulmonary outcomes in patients with CF
Sex • Male patients with CF appear to be less affected than
female patients with CF. Females have greater deterioration of pulmonary function with increasing age and younger mean age at death.
• Although the idea has been suggested that the increase in hormone secretion related to menarche may interfere with the defense mechanisms of the immune system, thereby promoting progressive pulmonary involvement, the immune system in patients with CF is fundamentally intact.
Age
• Median age at diagnosis is 6 – 8 months. CF is diagnosed in 2/3 of patients by 1 yr of age
• The median survival age in males is slightly higher than that in females
• More than 40% of all people with CF in US are 18 yrs or older
• In 2005, predicted median age of survival rose to 36.5 yrs, up from 32 in 2000 (US)
• Clinical manifestations vary with the patient's age at presentation
• Neonates may present with meconium ileus or, rarely, with other features such as anasarca.
• In patients younger than 1 year, they can present with wheezing, coughing, and/or recurring respiratory infections and pneumonia.
• Gastrointestinal tract presentation in early infancy may be in the form of steatorrhea, failure to thrive, or both.
• Patients diagnosed later in childhood or in adulthood have PS more
frequently and often present with chronic cough and sputum production
PSYCHOSOCIAL
IMPLICATIONS
• Had to attend part-time classes at local community
• Denies smoking, drug use & sexual activity
• Do takes alcohol
• Depression & emotional difficulties
IN CASE STUDY P.I
Reaction of parent/family members
• In some cases when children are first diagnosed, parents’ emotional reactions are:
Shock, denial, anger, adaptation & acceptance
“chronic sorrow” characterized by periods of coping & mourning brought on by stressful life events & periods of ill health
Bringing up a medically “special” child & in as “normal” as possible preparing for adulthood
Worried abt their child’s development & treatment
Childhood • Emotional difficulties
Sleep problems, social withdrawal, poor treatment adherence, be upset due to bullying
Worries abt school, physical problems made worse by worries, traumatic experiences, fears or phobias
Uncertainty & lack of control anxiety, insecurity & depression
Siblings affected by “competing” demands for parents’ attention
Adolescence As CF children grow enjoy same opportunities
& challenges as their peers
During adolescence independence & responsibility for their own treatment can lead to frustration
ADULTHOOD
Experience diff range of emotional & social experiences e.g. coping with work & relationships (parenthood), isolation
Deteriorations in health with –ve effects on their independence, quality of life & psychosocial well being
At work
People with CF have been removed from their jobs
Some have got rejections all the time
Some have even obtained a promotion for being CF patients
Others have got sympathy & help from colleagues
