Cystic+Fibrosis

toc =Etiology=

Genetic Basis
>* cost $1.5-2.5k >* PCR on exons & splice sites >* Other option is heteroduplex formation screening >* third option is sequencing
 * cAMP regulated chloride channel
 * over 1500 point mutations can cause disease
 * disease manifests in lungs, pancreas, sinuses, liver, bones, vas deferense
 * Genetic testing available:

=Pathology=
 * deficiency in CFTR causes mucus to become very thick, impairs mucociliary elevator function
 * intrinsic inflammation?
 * chronic bacterial infection (bronchitis)
 * bronchiectasis from airway damage
 * chronic airflow obstruction
 * Respiratory Failure & Death

Bacterial Pathogens in CF
>* h. Influenzae >* s. Aureus >* p. Aeruginosa >* MRSA >* Stentotrophomonas Maltophilia >* achromobacter Xylosoxidans
 * **Common**
 * **Uncommon**

>* p. Aeruginosa or b. Cepacia complex species persist in lung >* //Infection//, not colonization >* Difficult to eradicate: >>* antibiotic resistance >>* poor penetration of antibiotic to secretions >>* biofilms from mucoid pseudomonas >>* CF-related defects in mucosal defenses =Symptoms= =Signs= =Differential Diagnosis= =Treatment= >* if symptoms mild, bugs vulnerable >* For pseudomonas, use 2 together >* high doses of aminoglycosides are needed >* > 10d duration >* continue until symptoms return to baseline >* No studies, but still routinely given >* FEV1 improves acutely in some patients >>* albuterol, other adrenergic agonists, salmeterol >>* cholinergic antagonists (ipratropium bromide, tiotropium) >* Glucocorticoids >>* Prednisone >>* Inhaled >* Ibuprofen >>* demonstrated benefit in young patients but no evidence for adults >* Athitromycin >>* Improved FEV1 >>* Fewer acute episodes >* Same guidelines as O2 >* //Very// poor outcomes >* Bilateral >* outcome similar to non-CF >* Problems >>* waiting lists, exclusions >* Living donors
 * Natral History of CF Infections
 * productive cough
 * hempotysis
 * shortness of breath
 * sometimes, fever
 * reduction in FEV1
 * sometimes, worsening infiltrateson CXR
 * Oral antibiotics
 * IV Antibiotics
 * Bronchodilators
 * Antiinflammatory treatment
 * Macrolides
 * Nebulized hypertonic saline
 * Physiotherapy
 * Supplemental Oxygen
 * Assisted Ventilation
 * Lung transplatnation

>* Gene therapy >* Protein Repair Therapy >* Otherion channels >* Better research on bacterial growth >* drug development
 * **Survival is improving**
 * Experimental