“ 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 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.

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 ...

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/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/A-Z_Encyclopedia/cysticfibrosisbasics.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.