Cystic Fibrosis Lecture Powerpoint

Question 1

Cystic fibrosis is a disease of….

Answer 1

…..MULTIPLE organ systems

Question 2

Most common life shortening autosomal recessive disease among caucasian population

Answer 2

Cystic fibrosis

Question 3

What sex is more affected by cystic fibrosis? What is the MEDIAN predicted survival age? What % of patients reach adulthood with current treatments?

Answer 3

Females, 36, 80%

Question 4

Pathophysiology of cystic fibrosis

Answer 4

Caused by defects in CFTR gene (autosomal recessive and poor penetrance, genotype does not predict pattern or severity of disease) on long arm of chromosome 7 that has one of at least 1893 possible mutations that results in abnormalities of the cAMP regulated chloride transport across epithelial cells (secretion of it becomes decreased and reabsorption of Na+ and H2O increases) on mucosal surfaces resulting in increased viscosity of all body fluid secretions making them difficult to clear

Question 5

Classic cystic fibrosis presents with elevated….

Nonclassic CF presents with…

Answer 5

….sweat chloride (>60mmol/L) AND involvement of one or more organ systems

….normal sweat chloride but full diagnostic criteria otherwise

Question 6

Clinical presentation of cystic fibrosis in neonates

Answer 6

Often see meconium ileus, intestinal atresia, perforation, and rarely anasarca (extreme generalized edema)

Question 7

Clinical presentation of cystic fibrosis in <1 year old

Answer 7

New born screening routinely performed, present with wheezing, cough, recurrent respiratory infections, failure to thrive, steatorrhea

Question 8

Clinical presentation of cystic fibrosis in adulthood

Answer 8

Typically present with atypical symptoms such as pancreatic insufficiency, chronic cough, GI manifestations, DM, and infertility

Question 9

Majority of patients with respiratory tract involvement from cystic fibrosis have a ____ infection

Answer 9

Pseudomonas aeruginosa

Question 10

Pancreatic disease in cystic fibrosis

Answer 10

Tends to be progressive, begins with pancreatic insufficiency and fat malabsorption by 1 year with steatorrhea, failure to thrive, abdominal distension, and fat soluble vitamin deficiencies.
Those that retain pancreatic sufficiency will often see progressive pancreatitis secondary to thickened secretions

Question 11

Meconium ileus in cystic fibrosis

Answer 11

80-90% of patients with this have cystic fibrosis due to obstruction by meconium in newborn due to thickening of mucosa, will often see episodes of small bowel obstruction, if identified early can control medically opposed to need for surgery which may lead to future complications

Question 12

What should be on differential with any patient with cystic fibrosis presenting with stomach pain?

Answer 12

Distal intestinal obstructive syndrome (DIOS) (similar to constipation but occurs lower down due to the decreased secretions because of CF)

Question 13

Hepatobiliary disease and cystic fibrosis

Answer 13

Common asymptomatic finding in CF patients, focal biliary cirrhosis is 3rd leading cause for liver transplant in late childhood

Question 14

Musculoskeletal disease and cystic fibrosis

Answer 14

Often see reduced bone mineral density, increased rate of fractures, hypertrophic osteoarthropathy (abnormal proliferation of skin and osseous tissue at distal extremities)

Question 15

Other manifestations of cystic fibrosis that are less common (3)

Answer 15

• Rectal prolapse
• infertility (95% of men, problem with sperm transport thru vas deferens***, females have reduced fertility as well)
• Recurrent venous thrombosis

Question 16

Signs of cystic fibrosis on a chest xray (3)

Answer 16

• hyperinflation
• bilateral infiltrates
• bronchiectasis

Question 17

Aquagenic wrinkling of palmsa

Answer 17

A rare condition associated with cystic fibrosis characterized by rapid transient formation of edematous whitish plaques on palms on exposure to water (positive hand in bucket sign)

Question 18

Sweat chloride test and result interpretation

Answer 18

Collection of sweat using pilocarpine iontrophoresis then determination of chloride conc., intermediate result of 30-59 mmol/L needs further eval, abnormal result >60mmol/L repeat and consider CFTR genesequencing

Question 19

Cystic fibrosis treatment principles (2)

Answer 19

• multi-disciplinary approach, often in a specialty center (CF center) seeing pulmonologist, gastro, surgeon, endocrinologist, etc.
• primary goals is to maintain lung function close to normal as possible for as long as possible, administer nutritional therapy for adequate growth, and manage complications

Question 20

Management of acute exacerbation of cystic fibrosis treatment options (8)

Answer 20

• inhaled bronchodilators
• chest therapy and postural drainage
• oral antibiotics such as fluoroquinolones
• pancreatic enzymes
• bronchodilators
• inhaled hypertonic saline
• trikafta genetic target
• inhaled antibiotics, tobramycin

Question 21

Surgical management of cystic fibrosis

Answer 21

May be required for pneumothroax, recurrent or persistent hemptysis, or nasal polyps. Lung transplant is indicated for end stage lung disease that improves quality of life but not survival (still have the same gene)

Question 22

Chest physiotherapy vest

Answer 22

A device that uses high frequency chest wall oscillation 25-30 min/session multiple times a day where a vest has air sent thru it causing it to inflate and deflate rapidly as often as 20x/sec creating pressure similar to clapping (chest therapy) that separates and moves mucus up large airways where it can then be coughed up to alleviate cystic fibrosis