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Cystic Fibrosis
Cystic Fibrosis
Fibros
is
By:
MA. CLARITA VARQUEZ
BSN 2b
RLE Group 4
I. Introduction
Cystic fibrosis is a multi-system disorder of the exocrine glands,
leading to increased production of thick mucus in bronchioles, small
intestines and pancreatic and bile ducts & even causes fertility
problems. It is an autosomal recessive disorder that obstructs small
passageways of these organs:
II. Pathophysiology
III. Laboratory Tests
Diagnosis of CF can be determined at three stages - prenatal,
postnatal and early childhood.
In pregnant women, the amniotic fluid surrounding the fetus can
be tested for fetal intestinal enzymes. Using a procedure called an
amniocentesis, a sample of amniotic fluid is extracted from the
amniotic sac (the protective covering around the fetus) and analyzed.
In a fetus with CF, the enzymes are decreased.
• Sweat Chloride Test
The most common test for children and young adults is the
electrolyte sweat test. This test measures the amount of electrolytes
(sodium [salt], potassium and chloride) in a person's sweat. This is done
by applying a chemical (called pilocarpine-used to stimulate sweat
production) to the forearm and using a mild electric current to cause
the area to sweat. It analyzes sodiam and chloride content in sweat and
if this results to higher than normal amounts of sodium and chloride,
CF is present. It is done after 3-4 weeks after birth. Patient often
report that infants taste salty when kissed.
• Immunoreactive Trypsinogen Test (IRT)
In newborn babies who cannot produce enough sweat for a sweat test,
an IRT may be done. An IRT is a blood test that involves drawing blood
a couple of days after birth and evaluating the presence of the protein
trypsinogen. If the test is positive, it should be confirmed by a
mutation analysis (i.e., genetic testing). The combination of an IRT and
a mutation analysis is sensitive 90% to 100% of the time.
• Nasal Potential Difference (NPD) Measurement
As Na+ (sodium) and Cl- ions move across the membranes of the cells
lining the airway, they generate what is called an electric potential
difference (the amount of energy required to move an electrical charge
from one point to another). In the nasal passages, this electric
potential difference is known as the nasal potential difference (NPD),
and it can be easily measured with a surface electrode. Because Na+
and Cl- transport is abnormal in CF patients, NPD measurements are
very different in CF patients than in people who do not have CF.
This test is especially helpful when the sweat electrolyte test and/or
the genetic tests are inconclusive. However, the success of the test is
highly dependent on the skill of the technician, and should be done in a
special center.
• Genetic Testing
A genetic test, also known as a genotype test or mutation analysis, is
designed to analyze DNA for the presence of one of the several
hundred mutations that can cause CF. The test involves collecting a
sample of the patient's blood. The test cannot detect all of the
mutations that can cause CF, however, so its sensitivity is only about
80% to 85%. Genetic testing cannot be used to predict the severity of
symptoms. There is no way to know, based on a person's genotype,
whether CF will be fatal or mild.
Generally, a genetic test is done if a patient's sweat test is negative
and there is still high suspicion that the patient has CF.
• Pulmonary Function Tests
Pulmonary function tests may be done to assess the patient's
respiratory dysfunction and whether the patient is healthy enough to
receive a lung transplant, if necessary.
• 72-hour stool collection (Keep food diary)
• Chest x-ray
V. Surgical Management
• Surgical Therapy
VI. Medications
• Nasal corticosteroids
These agents decrease mucosal edema and promote mucus clearance.
• Systemic corticosteroids
Short-term bursts may be beneficial for acute exacerbations and may
prevent increased intraoperative bleeding in patients with severe
polyposis.
• Decongestants
These agents are helpful in improving the nasal airway and shrinking
down swollen tissues in some patients.
The Cystic Fibrosis Foundation has built a dynamic "pipeline" for the
development of more new potential CF therapies than ever before. To
treat a complex disease like cystic fibrosis (CF), therapies must target
problems in the airways and the digestive system.
In the cystic fibrosis drug development pipeline, there also are
promising new therapies designed to rectify the cause of CF—a faulty
gene and/or its faulty protein product.
ANTI-INFLAMMATORY
The drugs in this category are being studied for their ability to reduce
inflammation in CF lungs, which should help decrease chronic damage to
lung tissue.
• Ibuprofen: A four-year CFF-supported high dose ibuprofen trial
completed in 1990 demonstrated less lung function decline in the
treatment group than the control group. This effect was greatest
in 5-13 year-olds.
• Oral N-acetylcysteine: BioAdvantex – An antioxidant, oral N-
acetylcysteine replenishes glutathione levels in neutrophils.
Placebo-controlled 12-week study at Stanford Univ.
demonstrated decreases in inflammatory cells in lung and positive
indications of changes in pulmonary function.
• DHA: Univ. of Massachusetts, CFFT-supported as clinical
research grant. Pilot study to examine effect of infant formula
fortified with DHA on pathogenesis of CF in 120 newly diagnosed
patients at 16 centers began in 2003.
• Sildenafil (Revatio): Based upon prior work by researchers at the
University of New Mexico, clinicians there are examining whether
sildenafil can lower markers of airway inflammation and measures
of airway infection in CF patients, as well as alter the patient's
perception of their own well being.
• Inhaled Glutathione: A Phase 1 trial of inhaled glutathione has
been completed in Germany and a Phase 2b trial is now in
progress.
• Pioglitazone, Hydroxychloroquine: These approved therapies
(approved for non-CF indications) are being evaluated in
exploratory Phase 1 trials in CF to determine if they are
tolerated and if anti-inflammatory effects are seen.
• Simvastatin (Zocor™): A HMG-CoA reductase inhibitor that
increases nitric oxide (NO) production in cultured CF epithelial
cells. Investigators are evaluating, in a CFFT-funded trial,
whether simvastatin increases exhaled NO production in CF
patients, synthesis of pro-inflammatory cytokines and whether
measures of inflammation in the upper respiratory tract
correlate with those from the lower respiratory tract.
• HE-3286: Hollis-Eden Pharmaceuticals, supported by a CFFT
TDA. An oral immune-regulating hormone which has replaced
HE2000.
ANTI-INFECTIVE
The compounds in this category are being evaluated for their
effectiveness in fighting acute and chronic lung infections by
destroying infection-causing bacteria that enter into the airways and
colonize.
• TOBI®: Novartis Pharmaceuticals – This CFF/Children’s Hospital,
Seattle-developed aerosol antibiotic was licensed to Chiron and
received FDA approval in 1997. Currently being used by more than
15,000 patients worldwide. Benefit at first sign(s) of
Pseudomonas infection is being evaluated.
IX. Sources:
http://www.scribd.com/doc/12826781/Cystic-Fibrosis-21
http://www.scribd.com/doc/7859297/Cystic-Fibrosis
http://emedicine.medscape.com/article/862538-treatment
http://ghr.nlm.nih.gov/condition=cysticfibrosis
http://www.cftrust.org.uk/aboutcf/whatiscf/treatment/
http://www.merck.com/mmpe/sec19/ch278/ch278a.html
http://www.pulmonologychannel.com/cf/diagnosis.shtml
http://www.mayoclinic.com/health/cystic-
fibrosis/DS00287/DSECTION=lifestyle-and-home-remedies
http://www.cff.org/treatments/Pipeline/
http://www.medpagetoday.com/Pulmonary/CysticFibrosis/
_THE END_