65 Roses

1
65 Roses

• A Case Study about Cystic Fibrosis
• by La Toya Campbell

2
Patient History

• 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

3
Laboratory Findings

• pH 7.39 (7.35 - 7.45)
• pCO2 47 (35 - 45)
• pO2 68 (80 - 100)
• HCO3 26 (22 - 28)
• O2 Sat 98 (95 - 100)

4
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)

5
Cystic Fibrosis

• 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.

6
Cystic Fibrosis - continued

• 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.

7
Understanding CF
8
Cause of CF

• 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.

9
Symptoms of Cystic Fibrosis

• 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.

10
Risk for CF

• 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 arent 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.

11
Diagnosing CF

• 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.
• 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.

12
Diagnosing CF - continued

• 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

13
Managing CF

• Tobramycin for lung infections caused by
  bacteria.
• Decongestants, bronchodilators (drugs that open
  airways congested with mucus) and
  anti-inflammatory drugs.
• Nutritional therapy (high-protein, high-calorie
  diet with vitamin supplements)
• Pancreatic enzymes to aid in digestion

14
Managing CF - continued

• 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.

15
Summary

• 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

16
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 ...
17
(No Transcript)
18
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/hom
  e/
• Last accessed 11/05/04.
• 65 Roses http//www.cysticfibrosiswa.org/redrose
  .html
• Last accessed 11/05/04.
• Understanding Cystic Fibrosis, http//www.hipusa.c
  om/eTools/webmd/A-Z_Encyclopedia/cysticfibrosisbas
  ics.htm
• Last accessed 11/05/04.

19
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.