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“ 65 Roses”
A Case Study about Cystic Fibrosis
by La Toya Campbell
Patient History
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4 year old male born with meconium ileus and
slight tachypnea
Has experienced poor weight gain since birth
Chronic cough not consistent with pertussis
History of Pseudomonas aeruginosa infection,
bacterial meningitis and recurrent pneumonia
infections
Admitted to the emergency room after experiencing
a serious coughing episode, turning blue and
expectorating green mucus
Laboratory Findings
pH
 pCO2
 pO2
 HCO3
 O2 Sat
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7.39
47
68
26
98
(7.35 - 7.45)
(35 - 45)
(80 - 100)
(22 - 28)
(95 - 100)
Laboratory Findings - continued
Na 141
(139 - 146)
K
5.2
(4.0 - 6.2)
 Cl
105
(95 - 107)
 CO2 26
(24 - 32)
 Sweat chloride 96 (0 - 40)
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Cystic Fibrosis
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Cystic Fibrosis (CF) is an incurable disorder that is
inherited autosomal recessively.
It mainly affects the respiratory system and the
digestive system.
The body secretes an abnormally thick mucus
causing an obstruction in the lungs and the
pancreas.
Cystic Fibrosis - continued
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The abnormal mucus secretion in the lungs leads
to breathing problems and repeated respiratory
infections, such as pneumonia and bronchitis.
In the pancreas, the mucus interferes with
digestive enzymes and its ability to secrete the
hormone insulin (needed to break down sugar),
making it difficult to effectively digest food and
absorb the nutrients.
Understanding CF
Cause of CF
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CF is caused by a defect in the gene CFTR (Cystic
Fibrosis Transmembrane Conductance), a protein
found in cells that line the lungs, digestive tract,
sweat glands, and the genitourinary system.
It controls the flow of chloride ions in and out of
these cells.
In a healthy person, CFTR forms a channel in the
plasma membrane allowing chloride ions to enter
and leave the cells. In a person with CF, the CFTR
prevents chloride from entering or leaving the cells,
resulting in the thick mucus that causes the
obstruction.
Symptoms of Cystic Fibrosis
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Can very from person to person
They can become apparent shortly after birth or
can go undetected for months or years.
The most common symptom is intestinal blockage
in newborns (meconium ileus).
Others symptoms can include bulky or greasy stool,
poor weight gain or abnormal weight loss.
Shortness of breath, wheezing, persistent cough
producing a thick mucus
Frequent respiratory infections, such as
Pseudomonas aeruginosa or abnormally salty
sweat and dehydration.
Risk for CF
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As mentioned earlier, it is an autosomal recessive
disease.
It has an incidence of 1 in 1600 Caucasian births,
1 in 17,000 African American births and 1 in
90,000 Asian Americans.
Approximately 1 in every 20 Caucasians is a carrier.
They carry an abnormal copy of the CF gene but
aren’t sick with the disease. You must inherit two
abnormal copies of the gene, one from your
mother and one from your father, to have cystic
fibrosis.
Diagnosing CF
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Symptoms suggestive of CF are exhibited by the
patient.
A sweat chloride test also known as Sweat Test or
Iontophoretic Sweat Test is performed.
The sweat test measures the level of chloride in
the sweat using a small electric current.
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Pilocarpine is a chemical used to stimulate the sweat
glands.
The sweat is collected on a gauze for 30 minutes, then
weighed in a weighing jar.
A chloride reading of more than 40 mEq/L is
suggestive of CF.
Diagnosing CF - continued
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There are various other tests used to diagnose
Cystic Fibrosis such as:
1. DNA testing
2. Fecal fat Test
3. Upper GI and small bowel series
4. Measurement of pancreatic function
CF gene mutation is useful for diagnosing CF as
well as determining CF carriers
Pulmonary function tests (PFTs) are breathing
tests that help measure lung reserve and degree
of airflow obstruction
Managing CF
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Tobramycin for lung infections caused by bacteria.
Decongestants, bronchodilators (drugs that open
airways congested with mucus) and antiinflammatory drugs.
Nutritional therapy (high-protein, high-calorie diet
with vitamin supplements)
Pancreatic enzymes to aid in digestion
Managing CF - continued
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Chest physical therapy or postural drainage (chest
or back clapping) helps to loosen and drain the
mucus from the lungs.
Newer treatments include inhalation of a spray
containing normal copies of the CF gene, which will
deliver the correct copy of the CF gene into the
lungs.
Also, protein repair therapy aims at repairing the
defective CFTR protein.
Summary
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4 year old male with poor weight gain and a history
of chronic cough was diagnosed with Cystic
Fibrosis
Cystic Fibrosis is an autosomal disorder that
affects the lungs and the pancreas
It is caused by a defect in the CFTR protein,
resulting in obstruction due to excess mucus
Patient treated with Motrin for fever and
Tobramycin for Psuedomonas aeruginosa infection
Receiving Pulmozyme inhalation therapy and Creon
for CF
65 Roses?
What do roses have to do with Cystic Fibrosis?
The term Sixty-five Roses was a translation of the words Cystic Fibrosis
to the ears of a four year old child ...
Mary Weiss became a volunteer for the Cystic Fibrosis Foundation in 1955
after learning that her three little boys had Cystic Fibrosis. Her duty was to call
every civic club, social and service organisation seeking financial support for
CF research. Mary's four year old son Richard listened closely to his mother as
she made each call. After several calls Richard came into the room and told his
Mum "I know what you are working for". Mary was dumbstruck because
Richard did not know what she was doing nor did he know that he had Cystic
Fibrosis. With some trepidation Mary posed the question back to Richard.
"What am I working for Richard?" "You are working for 65 Roses" he answered
so sweetly. Mary was speechless. She went over to him and tenderly pressed
his tiny body to hers. He could not see the tears running down Mary's cheeks
as she stammered "Yes Richard I'm working for 65 Roses".
References
Henry J. Clinical Diagnosis and Management by Laboratory
Methods. 20th ed. Philadelphia, W.B. Saunders Company,
2001.
 Cystic Fibrosis Foundation, http://www.cff.org/home/
Last accessed 11/05/04.
 “65 Roses” http://www.cysticfibrosiswa.org/redrose.html
Last accessed 11/05/04.
 Understanding Cystic Fibrosis,
http://www.hipusa.com/eTools/webmd/AZ_Encyclopedia/cysticfibrosisbasics.htm
Last accessed 11/05/04.
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Credits
This case study was
created by
LaToya Campbell, MT(ASCP)
while she was a
Medical Technology student in
the 2004 MT Class at
William Beaumont Hospital,
Royal Oak, MI.