Cystic Fibrosis

Front 1

cystic fibrosis

Back 1

-most common lethal (not so much anymore) genetic disease affecting the white pop (also other races)
-autosomal recessive (long arm of chr 7, CFTR gene)
-carrier rate 1 in 30
-median survival rate: 37 yrs

Front 2

2 major defects in CF

Back 2

1. production of thick, tenacious serections from exocrine glands
2. elevated concentrations of sodium, chloride, and potassium in sweat

Front 3

CF genetic mutations

Back 3

-the CFTR gene is defective when there is a mutation
-over 1,600 genetic mutations
-23 mutations are disease-causing
-most common mutation: deltaF508
-deletion of phenylalanine residue in position 508 of the CFTR gene
-if you have a defective or nonfunctioning CFTR protein it would not function well as a Cl channel and would effect Na channels

Front 4

CFTR protein

Back 4

-responsible for transport of ions in cells
-absent CFTR or not functioning CFTR results in abnml mucosal fluid

Front 5

clinical manifestations

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-lungs
-GI
-skin
-pancreas
-slide 14

Front 6

pancreatic insufficiency

Back 6

-maldigestion and malabsorption
-flow of enzymes from pancreas and bile form the GB is impaired
-due to mucous plugging an obstruction of pancreatic and bile ducts
-long-chain fats acted upon by bacteria in LI results in malodorous, greasy, floating stools

Front 7

pancreatic enzyme replacement

Back 7

-contain lipases, amylases and proteases
-adequate absorption met when there is formed stools and good weight gain
-fat-soluble vit supplementation

Front 8

GI manifestations

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1. Meconium ileus: inspissated intestinal secretions leading to obstruction
2. DIOS (distal intestinal obstruction syndrome)
-meconium ileus equivalent
-abd pain and fullness
-clean out
3. liver dz
4. gastroesophageal reflux

Front 9

CF: other complications

Back 9

1. DM
-may require insulin
-balance b/t good glucose control and wt gain
2. arthritis/purpuric skin rashes
-immune complex
3. hyponatremic dehydrations
-common in kids/summertime

Front 10

CF lung disease

Back 10

abnml gene --> abnml protein --> abnml salt transport --> infx & inflamm --> lung damage

Front 11

PFTs

Back 11

-nml flow vol curve
-concavity of expiratory loop

Front 12

goal of therapy

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-prevent and slow he progression of airway damage

Front 13

pulmonary mgmt

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1. maintain airway clearance
-bronchodilators
-chest PT
-alternative airway clearance techniques
2. DNase
-decreases viscosity of mucus
3. Aggressive tx of bronchopulmonary infxs
4. anti-inflammatory
-steroids
-ibuprofen
-macrolide
5. Hypertonic saline
-increases mucociliary clearance

Front 14

Serious complications of CF

Back 14

1. pneumothorax
2. massive hemoptysis
3. respiratory insufficiency
4. cor pulmonale

Front 15

diagnostic methods

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1. sweat testing
2. Genotyping/DNA mutation analysis
-genetic counseling
-blood test/buccal brushing on neonates
-recently, testing for more mutations (97 mutations) and gene sequencing are commercially available
3. Neonatal screening
4. Measurement of nasal potential difference

Front 16

sweat of a classic CF pt

Back 16

-is abnormally HIGH in sodium and chloride

Front 17

sweat chloride interpretation

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<40 mmol/L normal
40-60 mmol/L borderline abnml
>60 mmol/L abnormal
-a min of 75 mg of sweat must be collected
-quality assurance- duplicate sweat testing (right and left extremities)