Cystic Fibrosis Flashcards
What are the criteria for diagnosis of cystic fibrosis?
At least one of more of the following:
1. Chronic pulmonary disease
2. Chronic sinusitis
3. Characteristic gastrointestinal and nutritional abnormalities
4. Salt loss syndromes
5. Obstructive azoospermia
OR history of CF in a sibling
OR positive newborn screening test
PLUS at least one of the following:
- Elevated sweat chloride concentration
- Two CFTR gene mutations noted to cause CF on separate alleles
- Abnormalities in NPD testing that are typical for CF
What is considered an abnormal sweat chloride test?
Sweat chloride >60 mmol/L is abnormal (CF confirmed w. 2nd sweat test or DNA)
Sweat chloride 30-59 mmol/L is intermediate
Sweat chloride <29 mmol/L is normal (sufficient to r/o CF)
What are the three most typical bacteria that colonize a CF in early childhood?
- S. aureus (MSSA, MRSA)
- Non-typeable H. influenzae
- Pseudomonas aeruginosa
Aside from the three most common bacteria - what are typical colonizers of CF children?
- Stenotrophomonas maltophilia,
- Achromobacter xylosoxidans
- Burkholderia cepacia complex
- Nontuberculous mycobacteria (especially Mycobacterium avium complex and Mycobacterium abscessus)
- Aspergillus fumigatus
Children with CF require supplementation of which vitamins?
Fat soluble - A, D, E, K
What two gastrointestinal condition should be considered in any CF child presenting with abdominal pain?
Distal intestinal obstructive syndrome - complete/incomplete fecal obstruction of the ileocecum
Intussusception
What causes fertility issues in men with CF?
Defects in sperm transport - most have absent vas deferens
What causes fertility issues in women with CF?
Malnutrition
Thickened cervical mucous
What is the classic mutation in cystic fibrosis?
F508del mutation
What agent is often used as anti-inflammatory therapy for CF children colonized with Pseudomonas?
Azithromycin M-W-F
